Region: 2:166892071-166893071



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-166892571-T-C p.Glu1139Gly missense SCN1A 1 83176 1.20227E-5 41588 0 NA
2-166892579-C-T p.Ser1136Ser synonymous SCN1A 1 83200 1.20192E-5 41600 0 1.19381E-5
2-166892580-G-A p.Ser1136Leu missense SCN1A 1 83208 1.20181E-5 41604 0 7.95824E-6
2-166892596-C-T p.Asp1131Asn missense SCN1A 2 83252 2.40234E-5 41626 0 1.64867E-5
2-166892597-T-C p.Glu1130Glu synonymous SCN1A 1 83254 1.20114E-5 41627 0 NA
2-166892600-C-T p.Thr1129Thr synonymous SCN1A 4 83252 4.80469E-5 41626 0 6.25E-4
2-166892601-G-A p.Thr1129Met missense SCN1A 3 83256 3.60334E-5 41628 0 6.59533E-5
2-166892615-A-C p.Phe1124Leu missense SCN1A 2 83254 2.40229E-5 41627 0 3.97871E-6
2-166892657-A-G p.Ser1110Ser synonymous SCN1A 3 83212 3.60525E-5 41606 0 6.25E-4
2-166892660-G-A p.Pro1109Pro synonymous SCN1A 1 83204 1.20187E-5 41602 0 NA
2-166892662-G-T p.Pro1109Thr missense SCN1A 4 83202 4.80758E-5 41601 0 1.59151E-5
2-166892680-T-C p.Met1103Val missense SCN1A 2 83202 2.40379E-5 41601 0 NA
2-166892692-C-A p.Glu1099* stop_gained SCN1A 1 83176 1.20227E-5 41588 0 NA
2-166892695-C-T p.Asp1098Asn missense SCN1A 1 83174 1.2023E-5 41587 0 NA
2-166892698-T-C p.Ile1097Val missense SCN1A 1 83168 1.20239E-5 41584 0 NA
2-166892704-A-G p.Tyr1095His missense SCN1A 1 83172 1.20233E-5 41586 0 3.18532E-5
2-166892711-A-C p.Val1092Val synonymous SCN1A 1 83158 1.20253E-5 41579 0 1.59166E-5
2-166892727-C-T p.Gly1087Glu missense SCN1A 2 83102 2.40668E-5 41551 0 NA
2-166892729-T-A p.Ile1086Ile synonymous SCN1A 2 83090 2.40703E-5 41545 0 3.18492E-5
2-166892753-A-T p.Asp1078Glu missense SCN1A 1 83036 1.2043E-5 41518 0 NA
2-166892762-A-G p.Tyr1075Tyr synonymous SCN1A 1 82996 1.20488E-5 41498 0 7.96445E-6
2-166892767-C-T p.Asp1074Asn missense SCN1A 4 82966 4.82125E-5 41483 0 8.24987E-6
2-166892781-A-G p.Ile1069Thr missense SCN1A 1 82882 1.20653E-5 41441 0 NA
2-166892788-C-T p.Ala1067Thr missense SCN1A 55973 82030 0.682348 41015 19324 0.748278
2-166892796-T-C p.Asn1064Ser missense SCN1A 2 82816 2.41499E-5 41408 0 1.66061E-5
2-166892811-T-A p.Asp1059Val missense SCN1A 2 82776 2.41616E-5 41388 0 5.59007E-5
2-166892820-T-C p.Asn1056Ser missense SCN1A 1 82732 1.20872E-5 41366 0 NA
2-166892821-T-C p.Asn1056Asp missense SCN1A 5 82730 6.04376E-5 41365 0 4.79716E-5
2-166892822-G-A p.Asn1055Asn synonymous SCN1A 1 82726 1.20881E-5 41363 0 NA
2-166892826-A-C p.Leu1054Arg missense SCN1A 1 82710 1.20904E-5 41355 0 4.00147E-6
2-166892838-G-C p.Pro1050Arg missense SCN1A 1 82638 1.2101E-5 41319 0 NA
2-166892867-C-A p.Arg1040Ser missense SCN1A 1 82410 1.21345E-5 41205 0 2.84562E-5
2-166892880-T-G p.Gln1036Pro missense SCN1A 1 82342 1.21445E-5 41171 0 4.1213E-6
2-166892886-A-G p.Ile1034Thr missense SCN1A 28 82282 3.40293E-4 41141 0 8.59982E-4
2-166892927-G-T p.His1020Gln missense SCN1A 3 82278 3.64618E-5 41139 0 3.18593E-5
2-166892927-G-C p.His1020Gln missense SCN1A 1 82278 1.21539E-5 41139 0 NA
2-166892929-G-C p.His1020Asp missense SCN1A 3 82280 3.64609E-5 41140 0 NA
2-166892948-T-C p.Gln1013Gln synonymous SCN1A 1 82472 1.21253E-5 41236 0 3.18492E-5
2-166892963-T-G p.Glu1008Asp missense SCN1A 1 82594 1.21074E-5 41297 0 NA
2-166892971-C-A p.Asp1006Tyr missense SCN1A 1 82614 1.21045E-5 41307 0 NA
2-166892990-G-T p.Asn999Lys missense SCN1A 1 82610 1.21051E-5 41305 0 NA
2-166892998-C-T p.Ala997Thr missense SCN1A 2 82600 2.42131E-5 41300 0 4.01365E-6
2-166893029-G-C p.Leu986Leu synonymous SCN1A 1 82376 1.21395E-5 41188 0 8.01468E-6
2-166893040-C-T p.Val983Ile missense+splice_region SCN1A 1 82076 1.21838E-5 41038 0 NA
2-166893047-A-C c.2947-7T>G splice_region SCN1A 4 81920 4.88281E-5 40960 0 4.03584E-6