PER3
period circadian regulator 3 Gene Information
| Symbol | PER3 |
| Gene ID | 8863 |
| HGNC ID | HGNC:8847 |
| Ensembl ID | ENSG00000049246 |
| Type | PROTEIN_CODING |
| Location | Chr 1 |
Summary
This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene have been linked to sleep disorders. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2014]
Transcript Expression
Protein Expression
Domain Architecture
Interaction Network (Top 50)
Input Gene
Partner Gene
Thicker edge = Higher Score
Genetic Variants
Total: 272
| S.No. | Location | Mutation | AA Change | Significance | Class | Freq (gnomAD) |
|---|---|---|---|---|---|---|
| 1 | 1:7784912 | G T | R/L (12) | Uncertain_significance | likely_benign | 5.24921E-5 |
| 2 | 1:7784929 | G T | A/S (18) | Likely_benign | likely_benign | 0.0011417 |
| 3 | 1:7784950 | G A | E/K (25) | Uncertain_significance | likely_benign | 6.56676E-6 |
| 4 | 1:7784970 | C A | F/L (31) | Uncertain_significance | likely_pathogenic | 6.56745E-6 |
| 5 | 1:7784978 | A G | Q/R (34) | Uncertain_significance | likely_benign | NA |
| 6 | 1:7784980 | A G | R/G (35) | Uncertain_significance | likely_benign | NA |
| 7 | 1:7784996 | G C | S/T (40) | Uncertain_significance | likely_benign | NA |
| 8 | 1:7785445 | C A | Q/K (45) | Uncertain_significance | likely_benign | 0.000275605 |
| 9 | 1:7785483 | G C | M/I (57) | Uncertain_significance | ambiguous | NA |
| 10 | 1:7785510 | C G | F/L (66) | Uncertain_significance | likely_pathogenic | 1.31351E-5 |
| 11 | 1:7785515 | C T | S/L (68) | Uncertain_significance | likely_benign | 1.97006E-5 |
| 12 | 1:7785523 | C T | R/C (71) | Uncertain_significance | likely_benign | 1.97044E-5 |
| 13 | 1:7785544 | G C | D/H (78) | Uncertain_significance | ambiguous | 4.59734E-5 |
| 14 | 1:7785550 | C T | L/F (80) | Uncertain_significance | likely_pathogenic | NA |
| 15 | 1:7785554 | A G | N/S (81) | Uncertain_significance | likely_benign | NA |
| 16 | 1:7785565 | C T | R/C (85) | Uncertain_significance | likely_benign | 0.000118205 |
| 17 | 1:7786784 | A G | Y/C (113) | Uncertain_significance | likely_benign | 6.56745E-6 |
| 18 | 1:7786788 | T A | S/R (114) | Uncertain_significance | ambiguous | 1.31351E-5 |
| 19 | 1:7786807 | A G | I/V (121) | Uncertain_significance | likely_benign | NA |
| 20 | 1:7786810 | G A | A/T (122) | Uncertain_significance | likely_benign | 2.62715E-5 |
| 21 | 1:7788093 | A G | I/V (147) | Likely_benign | likely_benign | NA |
| 22 | 1:7788109 | C T | A/V (152) | Uncertain_significance | likely_benign | 4.59655E-5 |
| 23 | 1:7788123 | C T | R/C (157) | Likely_benign | likely_benign | 6.56651E-6 |
| 24 | 1:7788124 | G A | R/H (157) | Uncertain_significance | likely_benign | 1.31263E-5 |
| 25 | 1:7788142 | C T | A/V (163) | Uncertain_significance | likely_benign | 5.24976E-5 |
| 26 | 1:7788169 | C T | A/V (172) | Uncertain_significance | likely_benign | NA |
| 27 | 1:7788180 | A T | M/L (176) | Uncertain_significance | likely_benign | 0.000111656 |
| 28 | 1:7788193 | A G | Y/C (180) | Uncertain_significance | likely_benign | 1.97003E-5 |
| 29 | 1:7788195 | G A | A/T (181) | Likely_benign | likely_benign | 0.000275656 |
| 30 | 1:7788196 | C T | A/V (181) | Uncertain_significance | likely_benign | 0.000104994 |
| 31 | 1:7793969 | A C | Y/S (202) | Uncertain_significance | NA | NA |
| 32 | 1:7793969 | A C | Y/S (201) | Uncertain_significance | likely_benign | NA |
| 33 | 1:7793984 | T G | V/G (207) | Uncertain_significance | NA | 6.5672E-6 |
| 34 | 1:7793984 | T G | V/G (206) | Uncertain_significance | likely_benign | 6.5672E-6 |
| 35 | 1:7793995 | T G | F/V (211) | Uncertain_significance | NA | 6.56668E-6 |
| 36 | 1:7793995 | T G | F/V (210) | Uncertain_significance | ambiguous | 6.56668E-6 |
| 37 | 1:7798562 | C G | P/A (228) | Uncertain_significance | NA | 6.56651E-5 |
| 38 | 1:7798562 | C G | P/A (227) | Uncertain_significance | likely_benign | 6.56651E-5 |
| 39 | 1:7798574 | A G | I/V (232) | Uncertain_significance | NA | 0.00010498 |
| 40 | 1:7798574 | A G | I/V (231) | Uncertain_significance | likely_benign | 0.00010498 |
| 41 | 1:7798577 | C G | P/A (233) | Uncertain_significance | NA | 1.97013E-5 |
| 42 | 1:7798577 | C G | P/A (232) | Uncertain_significance | ambiguous | 1.97013E-5 |
| 43 | 1:7798637 | C G | L/V (253) | Uncertain_significance | NA | NA |
| 44 | 1:7798637 | C G | L/V (252) | Uncertain_significance | likely_benign | NA |
| 45 | 1:7798670 | G A | E/K (264) | Uncertain_significance | NA | NA |
| 46 | 1:7798670 | G A | E/K (263) | Uncertain_significance | likely_benign | NA |
| 47 | 1:7801115 | C T | P/S (266) | Uncertain_significance | NA | 6.57834E-6 |
| 48 | 1:7801115 | C T | P/S (265) | Uncertain_significance | ambiguous | 6.57834E-6 |
| 49 | 1:7801125 | C T | P/L (269) | Uncertain_significance | NA | NA |
| 50 | 1:7801125 | C T | P/L (268) | Uncertain_significance | likely_benign | NA |
| 51 | 1:7803060 | C G | L/V (296) | Uncertain_significance | NA | 0.000118118 |
| 52 | 1:7803060 | C G | L/V (295) | Uncertain_significance | likely_benign | 0.000118118 |
| 53 | 1:7803073 | C T | P/L (300) | Uncertain_significance | NA | NA |
| 54 | 1:7803073 | C T | P/L (299) | Uncertain_significance | likely_pathogenic | NA |
| 55 | 1:7803763 | A G | I/V (351) | Likely_benign | NA | NA |
| 56 | 1:7803763 | A G | I/V (350) | Likely_benign | likely_benign | NA |
| 57 | 1:7803832 | C T | R/W (374) | Uncertain_significance | NA | 9.18744E-5 |
| 58 | 1:7803832 | C T | R/W (373) | Uncertain_significance | likely_benign | 9.18744E-5 |
| 59 | 1:7803845 | G A | R/Q (378) | Uncertain_significance | NA | 6.56668E-6 |
| 60 | 1:7803845 | G A | R/Q (377) | Uncertain_significance | likely_benign | 6.56668E-6 |
| 61 | 1:7808909 | G A | D/N (385) | Uncertain_significance | NA | NA |
| 62 | 1:7808909 | G A | D/N (384) | Uncertain_significance | likely_benign | NA |
| 63 | 1:7808988 | T C | L/P (411) | Uncertain_significance | NA | 6.56651E-6 |
| 64 | 1:7808988 | T C | L/P (410) | Uncertain_significance | likely_pathogenic | 6.56651E-6 |
| 65 | 1:7809893 | C G | P/A (415) | Conflicting_classifications_of_pathogenicity | NA | 0.00494712 |
| 66 | 1:7809893 | C G | P/A (414) | Conflicting_classifications_of_pathogenicity | ambiguous | 0.00494712 |
| 67 | 1:7809900 | A G | H/R (417) | Conflicting_classifications_of_pathogenicity | NA | 0.00494731 |
| 68 | 1:7809900 | A G | H/R (416) | Conflicting_classifications_of_pathogenicity | likely_benign | 0.00494731 |
| 69 | 1:7809908 | G A | V/M (420) | Benign | NA | 0.00761781 |
| 70 | 1:7809908 | G A | V/M (419) | Benign | likely_benign | 0.00761781 |
| 71 | 1:7809928 | C A | S/R (426) | Uncertain_significance | NA | NA |
| 72 | 1:7809928 | C A | S/R (425) | Uncertain_significance | likely_pathogenic | NA |
| 73 | 1:7809968 | G A | A/T (440) | Uncertain_significance | NA | 5.249E-5 |
| 74 | 1:7809968 | G A | A/T (439) | Uncertain_significance | likely_benign | 5.249E-5 |
| 75 | 1:7810008 | C T | T/M (453) | Uncertain_significance | NA | 3.28373E-5 |
| 76 | 1:7810008 | C T | T/M (452) | Uncertain_significance | likely_benign | 3.28373E-5 |
| 77 | 1:7810457 | A G | Y/C (464) | Likely_benign | NA | 0.000124669 |
| 78 | 1:7810457 | A G | Y/C (463) | Likely_benign | likely_benign | 0.000124669 |
| 79 | 1:7810510 | A G | M/V (482) | Uncertain_significance | NA | 0.000249534 |
| 80 | 1:7810510 | A G | M/V (481) | Uncertain_significance | likely_benign | 0.000249534 |
| 81 | 1:7810523 | C T | S/L (486) | Uncertain_significance | NA | 2.62684E-5 |
| 82 | 1:7810523 | C T | S/L (485) | Uncertain_significance | likely_benign | 2.62684E-5 |
| 83 | 1:7810529 | A C | K/T (488) | Uncertain_significance | NA | NA |
| 84 | 1:7810529 | A C | K/T (487) | Uncertain_significance | likely_benign | NA |
| 85 | 1:7810547 | G A | R/H (494) | Uncertain_significance | NA | 2.62702E-5 |
| 86 | 1:7810547 | G A | R/H (493) | Uncertain_significance | likely_benign | 2.62702E-5 |
| 87 | 1:7810559 | A G | N/S (498) | Uncertain_significance | NA | 2.62809E-5 |
| 88 | 1:7810559 | A G | N/S (497) | Uncertain_significance | likely_benign | 2.62809E-5 |
| 89 | 1:7810577 | C T | A/V (504) | Likely_benign | NA | 3.94203E-5 |
| 90 | 1:7819306 | C A | S/Y (515) | Uncertain_significance | NA | 1.96993E-5 |
| 91 | 1:7819306 | C A | S/Y (507) | Uncertain_significance | likely_benign | 1.96993E-5 |
| 92 | 1:7819336 | T C | V/A (525) | Uncertain_significance | NA | 3.9399E-5 |
| 93 | 1:7819336 | T C | V/A (517) | Uncertain_significance | likely_benign | 3.9399E-5 |
| 94 | 1:7819341 | A G | T/A (527) | Likely_benign | NA | 0.00141087 |
| 95 | 1:7819341 | A G | T/A (519) | Likely_benign | likely_benign | 0.00141087 |
| 96 | 1:7819356 | G T | D/Y (532) | Uncertain_significance | NA | NA |
| 97 | 1:7819356 | G T | D/Y (524) | Uncertain_significance | likely_benign | NA |
| 98 | 1:7820171 | A C | N/T (572) | Uncertain_significance | NA | 0.000183843 |
| 99 | 1:7820171 | A C | N/T (564) | Uncertain_significance | likely_benign | 0.000183843 |
| 100 | 1:7820176 | A G | T/A (574) | Uncertain_significance | NA | NA |
| 101 | 1:7820176 | A G | T/A (566) | Uncertain_significance | likely_benign | NA |
| 102 | 1:7820560 | C T | T/M (626) | Uncertain_significance | NA | 1.31334E-5 |
| 103 | 1:7820560 | C T | T/M (618) | Uncertain_significance | likely_benign | 1.31334E-5 |
| 104 | 1:7820598 | G A | G/S (639) | Likely_benign | NA | 4.59698E-5 |
| 105 | 1:7820598 | G A | G/S (631) | Likely_benign | likely_benign | 4.59698E-5 |
| 106 | 1:7820622 | G C | V/L (647) | Uncertain_significance | NA | NA |
| 107 | 1:7820622 | G C | V/L (639) | Uncertain_significance | likely_benign | NA |
| 108 | 1:7820623 | T G | V/G (647) | Likely_benign | NA | 0.157107 |
| 109 | 1:7820623 | T G | V/G (639) | Likely_benign | likely_benign | 0.157107 |
| 110 | 1:7826560 | G A | V/M (680) | Uncertain_significance | NA | 3.94042E-5 |
| 111 | 1:7826560 | G A | V/M (672) | Uncertain_significance | likely_benign | 3.94042E-5 |
| 112 | 1:7826645 | C T | S/L (708) | Uncertain_significance | NA | 4.59758E-5 |
| 113 | 1:7826645 | C T | S/L (700) | Uncertain_significance | likely_benign | 4.59758E-5 |
| 114 | 1:7826690 | C T | A/V (723) | Likely_benign | NA | 0.000892482 |
| 115 | 1:7826690 | C T | A/V (715) | Likely_benign | likely_benign | 0.000892482 |
| 116 | 1:7827157 | G A | R/K (743) | Likely_benign | NA | 6.56633E-6 |
| 117 | 1:7827157 | G A | R/K (735) | Likely_benign | likely_benign | 6.56633E-6 |
| 118 | 1:7827163 | G A | G/E (745) | Uncertain_significance | NA | NA |
| 119 | 1:7827163 | G A | G/E (737) | Uncertain_significance | likely_benign | NA |
| 120 | 1:7827174 | C T | R/W (749) | Benign | NA | 0.00623999 |
| 121 | 1:7827174 | C T | R/W (741) | Benign | likely_benign | 0.00623999 |
| 122 | 1:7827181 | A G | K/R (751) | Uncertain_significance | NA | 6.56082E-6 |
| 123 | 1:7827181 | A G | K/R (743) | Uncertain_significance | likely_benign | 6.56082E-6 |
| 124 | 1:7827187 | C T | P/L (753) | Uncertain_significance | NA | NA |
| 125 | 1:7827187 | C T | P/L (745) | Uncertain_significance | likely_benign | NA |
| 126 | 1:7827202 | G A | S/N (758) | Benign/Likely_benign | NA | 0.00471748 |
| 127 | 1:7827202 | G A | S/N (750) | Benign/Likely_benign | likely_benign | 0.00471748 |
| 128 | 1:7827207 | A G | S/G (760) | Uncertain_significance | NA | 6.56056E-6 |
| 129 | 1:7827207 | A G | S/G (752) | Uncertain_significance | likely_benign | 6.56056E-6 |
| 130 | 1:7827211 | C T | S/L (761) | Uncertain_significance | NA | 5.2532E-5 |
| 131 | 1:7827211 | C T | S/L (753) | Uncertain_significance | likely_benign | 5.2532E-5 |
| 132 | 1:7827220 | G T | G/V (764) | Uncertain_significance | NA | NA |
| 133 | 1:7827220 | G T | G/V (756) | Uncertain_significance | likely_benign | NA |
| 134 | 1:7827228 | C T | P/S (767) | Conflicting_classifications_of_pathogenicity | NA | 0.000216521 |
| 135 | 1:7827228 | C T | P/S (759) | Conflicting_classifications_of_pathogenicity | likely_benign | 0.000216521 |
| 136 | 1:7827241 | C T | A/V (771) | Uncertain_significance | NA | 3.28317E-5 |
| 137 | 1:7827241 | C T | A/V (763) | Uncertain_significance | likely_benign | 3.28317E-5 |
| 138 | 1:7827244 | A G | H/R (772) | Likely_benign | NA | 9.19371E-5 |
| 139 | 1:7827244 | A G | H/R (764) | Likely_benign | likely_benign | 9.19371E-5 |
| 140 | 1:7827295 | C T | S/L (789) | Likely_benign | NA | 1.96998E-5 |
| 141 | 1:7827295 | C T | S/L (781) | Likely_benign | likely_benign | 1.96998E-5 |
| 142 | 1:7827340 | C T | P/L (804) | Uncertain_significance | NA | 1.96977E-5 |
| 143 | 1:7827340 | C T | P/L (796) | Uncertain_significance | likely_benign | 1.96977E-5 |
| 144 | 1:7827361 | C T | P/L (811) | Uncertain_significance | NA | 2.62633E-5 |
| 145 | 1:7827361 | C T | P/L (803) | Uncertain_significance | likely_benign | 2.62633E-5 |
| 146 | 1:7827364 | T C | L/P (812) | Likely_benign | NA | 0.000702367 |
| 147 | 1:7827364 | T C | L/P (804) | Likely_benign | likely_benign | 0.000702367 |
| 148 | 1:7827384 | G A | G/R (819) | Uncertain_significance | NA | 6.56625E-6 |
| 149 | 1:7827384 | G A | G/R (811) | Uncertain_significance | likely_benign | 6.56625E-6 |
| 150 | 1:7827415 | C T | P/L (829) | Likely_benign | NA | 6.56582E-6 |
| 151 | 1:7827415 | C T | P/L (821) | Likely_benign | likely_benign | 6.56582E-6 |
| 152 | 1:7827417 | G A | E/K (830) | Uncertain_significance | NA | NA |
| 153 | 1:7827417 | G A | E/K (822) | Uncertain_significance | likely_benign | NA |
| 154 | 1:7827430 | G A | G/E (834) | Uncertain_significance | NA | NA |
| 155 | 1:7827430 | G A | G/E (826) | Uncertain_significance | likely_benign | NA |
| 156 | 1:7827439 | T G | L/W (837) | Benign | NA | 0.00258503 |
| 157 | 1:7827439 | T G | L/W (829) | Benign | likely_benign | 0.00258503 |
| 158 | 1:7827456 | C T | P/S (843) | Likely_benign | NA | 0.000275554 |
| 159 | 1:7827456 | C T | P/S (835) | Likely_benign | likely_benign | 0.000275554 |
| 160 | 1:7827457 | C T | P/L (843) | Uncertain_significance | NA | 1.96974E-5 |
| 161 | 1:7827457 | C T | P/L (835) | Uncertain_significance | likely_benign | 1.96974E-5 |
| 162 | 1:7827459 | T A | Y/N (844) | Uncertain_significance | NA | NA |
| 163 | 1:7827459 | T A | Y/N (836) | Uncertain_significance | likely_benign | NA |
| 164 | 1:7827463 | C T | P/L (845) | Uncertain_significance | NA | 3.28304E-5 |
| 165 | 1:7827463 | C T | P/L (837) | Uncertain_significance | likely_benign | 3.28304E-5 |
| 166 | 1:7827478 | C A | P/H (850) | Uncertain_significance | NA | NA |
| 167 | 1:7827478 | C A | P/H (842) | Uncertain_significance | likely_benign | NA |
| 168 | 1:7827513 | G C | D/H (862) | Uncertain_significance | NA | 0.00104331 |
| 169 | 1:7827513 | G C | D/H (854) | Uncertain_significance | likely_benign | 0.00104331 |
| 170 | 1:7827573 | A G | T/A (882) | Likely_benign | NA | 3.93721E-5 |
| 171 | 1:7827573 | A G | T/A (874) | Likely_benign | likely_benign | 3.93721E-5 |
| 172 | 1:7827586 | C T | A/V (886) | Uncertain_significance | NA | 1.3134E-5 |
| 173 | 1:7827586 | C T | A/V (878) | Uncertain_significance | likely_benign | 1.3134E-5 |
| 174 | 1:7827588 | A G | I/V (887) | Uncertain_significance | NA | 2.6274E-5 |
| 175 | 1:7827588 | A G | I/V (879) | Uncertain_significance | likely_benign | 2.6274E-5 |
| 176 | 1:7827609 | G C | A/P (894) | Uncertain_significance | NA | 5.25376E-5 |
| 177 | 1:7827609 | G C | A/P (886) | Uncertain_significance | likely_benign | 5.25376E-5 |
| 178 | 1:7827617 | T G | S/R (896) | Uncertain_significance | NA | 1.31397E-5 |
| 179 | 1:7827617 | T G | S/R (888) | Uncertain_significance | likely_benign | 1.31397E-5 |
| 180 | 1:7827622 | C G | T/S (898) | Uncertain_significance | NA | 1.96998E-5 |
| 181 | 1:7827622 | C G | T/S (890) | Uncertain_significance | likely_benign | 1.96998E-5 |
| 182 | 1:7827625 | T C | L/P (899) | Uncertain_significance | NA | 7.88074E-5 |
| 183 | 1:7827625 | T C | L/P (891) | Uncertain_significance | likely_benign | 7.88074E-5 |
| 184 | 1:7827696 | C A | P/T (923) | Uncertain_significance | NA | 3.94006E-5 |
| 185 | 1:7827696 | C A | P/T (915) | Uncertain_significance | likely_benign | 3.94006E-5 |
| 186 | 1:7827778 | A T | D/V (950) | Uncertain_significance | NA | 6.56651E-6 |
| 187 | 1:7827778 | A T | D/V (942) | Uncertain_significance | likely_benign | 6.56651E-6 |
| 188 | 1:7827779 | T A | D/E (950) | Uncertain_significance | NA | 2.62702E-5 |
| 189 | 1:7827779 | T A | D/E (942) | Uncertain_significance | likely_benign | 2.62702E-5 |
| 190 | 1:7827780 | C A | Q/K (951) | Uncertain_significance | NA | 6.56685E-6 |
| 191 | 1:7827780 | C A | Q/K (943) | Uncertain_significance | likely_benign | 6.56685E-6 |
| 192 | 1:7829855 | G A | G/S (969) | Likely_benign | NA | 1.96985E-5 |
| 193 | 1:7829855 | G A | G/S (970) | Likely_benign | NA | 1.96985E-5 |
| 194 | 1:7829855 | G A | G/S (961) | Likely_benign | likely_benign | 1.96985E-5 |
| 195 | 1:7830056 | A G | M/V (1018) | Uncertain_significance | NA | 2.63737E-5 |
| 196 | 1:7830056 | A G | M/V (1037) | Uncertain_significance | NA | 2.63737E-5 |
| 197 | 1:7830056 | A G | M/V (1028) | Uncertain_significance | likely_benign | 2.63737E-5 |
| 198 | 1:7830057 | T C | M/T (1018) | Likely_benign | NA | 0.232084 |
| 199 | 1:7830057 | T C | M/T (1037) | Likely_benign | NA | 0.232084 |
| 200 | 1:7830057 | T C | M/T (1028) | Likely_benign | likely_benign | 0.232084 |
| 201 | 1:7830063 | T C | L/S (1020) | Likely_benign | NA | 0.00142398 |
| 202 | 1:7830063 | T C | L/S (1039) | Likely_benign | NA | 0.00142398 |
| 203 | 1:7830063 | T C | L/S (1030) | Likely_benign | likely_benign | 0.00142398 |
| 204 | 1:7830075 | G A | R/K (1024) | Uncertain_significance | NA | 3.28554E-5 |
| 205 | 1:7830075 | G A | R/K (1043) | Uncertain_significance | NA | 3.28554E-5 |
| 206 | 1:7830075 | G A | R/K (1034) | Uncertain_significance | likely_benign | 3.28554E-5 |
| 207 | 1:7830093 | C T | T/I (1030) | Conflicting_classifications_of_pathogenicity | NA | 0.00137779 |
| 208 | 1:7830093 | C T | T/I (1049) | Conflicting_classifications_of_pathogenicity | NA | 0.00137779 |
| 209 | 1:7830093 | C T | T/I (1040) | Conflicting_classifications_of_pathogenicity | likely_benign | 0.00137779 |
| 210 | 1:7830096 | C T | A/V (1031) | Uncertain_significance | NA | 7.22268E-5 |
| 211 | 1:7830096 | C T | A/V (1050) | Uncertain_significance | NA | 7.22268E-5 |
| 212 | 1:7830096 | C T | A/V (1041) | Uncertain_significance | likely_benign | 7.22268E-5 |
| 213 | 1:7830119 | C T | P/S (1039) | Uncertain_significance | NA | 0.00013122 |
| 214 | 1:7830119 | C T | P/S (1058) | Uncertain_significance | NA | 0.00013122 |
| 215 | 1:7830119 | C T | P/S (1049) | Uncertain_significance | likely_benign | 0.00013122 |
| 216 | 1:7830128 | G A | E/K (1042) | Uncertain_significance | NA | 7.88022E-5 |
| 217 | 1:7830128 | G A | E/K (1061) | Uncertain_significance | NA | 7.88022E-5 |
| 218 | 1:7830128 | G A | E/K (1052) | Uncertain_significance | likely_benign | 7.88022E-5 |
| 219 | 1:7830134 | C G | P/A (1044) | Uncertain_significance | NA | NA |
| 220 | 1:7830134 | C G | P/A (1063) | Uncertain_significance | NA | NA |
| 221 | 1:7830134 | C G | P/A (1054) | Uncertain_significance | likely_benign | NA |
| 222 | 1:7830144 | C A | T/N (1047) | Uncertain_significance | NA | NA |
| 223 | 1:7830144 | C A | T/N (1066) | Uncertain_significance | NA | NA |
| 224 | 1:7830144 | C A | T/N (1057) | Uncertain_significance | likely_benign | NA |
| 225 | 1:7835773 | A G | S/G (1057) | Uncertain_significance | NA | 4.59619E-5 |
| 226 | 1:7835773 | A G | S/G (1076) | Uncertain_significance | NA | 4.59619E-5 |
| 227 | 1:7835773 | A G | S/G (1067) | Uncertain_significance | likely_benign | 4.59619E-5 |
| 228 | 1:7835781 | A G | I/M (1059) | Uncertain_significance | NA | 3.28054E-5 |
| 229 | 1:7835781 | A G | I/M (1078) | Uncertain_significance | NA | 3.28054E-5 |
| 230 | 1:7835781 | A G | I/M (1069) | Uncertain_significance | likely_benign | 3.28054E-5 |
| 231 | 1:7835872 | G A | A/T (1090) | Uncertain_significance | NA | 1.97031E-5 |
| 232 | 1:7835872 | G A | A/T (1109) | Uncertain_significance | NA | 1.97031E-5 |
| 233 | 1:7835872 | G A | A/T (1100) | Uncertain_significance | likely_benign | 1.97031E-5 |
| 234 | 1:7835899 | C T | R/W (1099) | Uncertain_significance | NA | NA |
| 235 | 1:7835899 | C T | R/W (1118) | Uncertain_significance | NA | NA |
| 236 | 1:7835899 | C T | R/W (1109) | Uncertain_significance | likely_benign | NA |
| 237 | 1:7835906 | C T | T/I (1101) | Likely_benign | NA | 0.000675826 |
| 238 | 1:7835906 | C T | T/I (1120) | Likely_benign | NA | 0.000675826 |
| 239 | 1:7835906 | C T | T/I (1111) | Likely_benign | likely_benign | 0.000675826 |
| 240 | 1:7835915 | G A | R/H (1104) | Uncertain_significance | NA | 2.62495E-5 |
| 241 | 1:7835915 | G A | R/H (1123) | Uncertain_significance | NA | 2.62495E-5 |
| 242 | 1:7835915 | G A | R/H (1114) | Uncertain_significance | likely_benign | 2.62495E-5 |
| 243 | 1:7835920 | C T | L/F (1106) | Uncertain_significance | NA | NA |
| 244 | 1:7835920 | C T | L/F (1125) | Uncertain_significance | NA | NA |
| 245 | 1:7835920 | C T | L/F (1116) | Uncertain_significance | likely_benign | NA |
| 246 | 1:7835927 | C T | T/I (1108) | Uncertain_significance | NA | 1.31334E-5 |
| 247 | 1:7835927 | C T | T/I (1127) | Uncertain_significance | NA | 1.31334E-5 |
| 248 | 1:7835927 | C T | T/I (1118) | Uncertain_significance | likely_pathogenic | 1.31334E-5 |
| 249 | 1:7837036 | C G | L/V (1127) | Uncertain_significance | NA | 7.8825E-5 |
| 250 | 1:7837036 | C G | L/V (1146) | Uncertain_significance | NA | 7.8825E-5 |
| 251 | 1:7837036 | C G | L/V (1137) | Uncertain_significance | likely_benign | 7.8825E-5 |
| 252 | 1:7837076 | G T | G/V (1140) | Uncertain_significance | NA | 5.90613E-5 |
| 253 | 1:7837076 | G T | G/V (1159) | Uncertain_significance | NA | 5.90613E-5 |
| 254 | 1:7837076 | G T | G/V (1150) | Uncertain_significance | likely_benign | 5.90613E-5 |
| 255 | 1:7837114 | C A | Q/K (1153) | Uncertain_significance | NA | NA |
| 256 | 1:7837114 | C A | Q/K (1172) | Uncertain_significance | NA | NA |
| 257 | 1:7837114 | C A | Q/K (1163) | Uncertain_significance | likely_benign | NA |
| 258 | 1:7837138 | A G | I/V (1161) | Uncertain_significance | NA | 1.31334E-5 |
| 259 | 1:7837138 | A G | I/V (1180) | Uncertain_significance | NA | 1.31334E-5 |
| 260 | 1:7837138 | A G | I/V (1171) | Uncertain_significance | likely_benign | 1.31334E-5 |
| 261 | 1:7842676 | G C | C/S (1166) | Benign | NA | 0.0104994 |
| 262 | 1:7842676 | G C | C/S (1185) | Benign | NA | 0.0104994 |
| 263 | 1:7842676 | G C | C/S (1176) | Benign | ambiguous | 0.0104994 |
| 264 | 1:7842678 | G T | V/F (1167) | Uncertain_significance | NA | NA |
| 265 | 1:7842678 | G T | V/F (1186) | Uncertain_significance | NA | NA |
| 266 | 1:7842678 | G T | V/F (1177) | Uncertain_significance | likely_benign | NA |
| 267 | 1:7842681 | A G | T/A (1168) | Uncertain_significance | NA | 2.62702E-5 |
| 268 | 1:7842681 | A G | T/A (1187) | Uncertain_significance | NA | 2.62702E-5 |
| 269 | 1:7842681 | A G | T/A (1178) | Uncertain_significance | likely_benign | 2.62702E-5 |
| 270 | 1:7842729 | C A | Q/K (1184) | Uncertain_significance | NA | 1.97039E-5 |
| 271 | 1:7842729 | C A | Q/K (1203) | Uncertain_significance | NA | 1.97039E-5 |
| 272 | 1:7842729 | C A | Q/K (1194) | Uncertain_significance | likely_benign | 1.97039E-5 |
Disease Associations
| S.No. | Disease Name | Ontology ID | Source |
|---|---|---|---|
| 1 | Bipolar Disorders | MONDO_0004985 | Disgenet |
| 2 | Breast Neoplasms | MONDO_0021100 | Disgenet |
| 3 | Depressive neurosis | MONDO_0002050 | Disgenet |
| 4 | Depression | MONDO_0002050 | Disgenet |
| 5 | Affective Disorder, Seasonal | MONDO_0000694 | Disgenet |