SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS2528037788 PTPRC Health Risk Likely pathogenic Immunodeficiency 104, Immunodeficiency 104
RS2528039666 NCF2 Health Risk Pathogenic Granulomatous disease, chronic
RS2528040305 NCF2 Health Risk Pathogenic Granulomatous disease, chronic
RS2528040592 HUWE1 Health Risk Likely pathogenic HUWE1-related disorder, HUWE1-related disorder
RS2528041334 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2528041770 USH2A Health Risk Pathogenic —
RS2528041806 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2528042112 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2528042451 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2528043049 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2528043946 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2528045041 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2528045056 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2528045084 USH2A Health Risk Pathogenic —
RS2528045266 USH2A Health Risk Pathogenic —
RS2528045584 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, See cases
RS2528045805 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2528046033 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2528046063 PTPRC Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS2528046090 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2528046131 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2528046144 USH2A Health Risk Pathogenic —
RS2528046473 USH2A Health Risk Likely pathogenic Usher syndrome, Usher syndrome
RS2528046543 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2528046555 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2528046622 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2528046708 USH2A Health Risk Pathogenic —
RS2528046714 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2528046804 USH2A Health Risk Likely pathogenic —
RS2528046838 USH2A Health Risk Pathogenic —
RS2528046958 PTPRC Health Risk Likely pathogenic Immunodeficiency 104, Immunodeficiency 104
RS2528046959 USH2A Health Risk Pathogenic —
RS2528047063 USH2A Health Risk Pathogenic —
RS2528047249 USH2A Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2528047332 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2528047823 SDCCAG8 Health Risk Pathogenic Senior-Loken syndrome 7, Bardet-Biedl syndrome 16
RS2528049157 PTPRC Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS2528051422 RYR2 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS2528051488 CACNA1C Health Risk Pathogenic/Likely pathogenic Long QT syndrome, Long QT syndrome
RS2528065309 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2528065508 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2528065738 USH2A Health Risk Pathogenic —
RS2528067118 UBAP2L Health Risk Pathogenic —
RS2528074679 MTR Health Risk Pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS2528075432 NBAS Health Risk Pathogenic —
RS2528078602 NBAS Health Risk Pathogenic —
RS2528087320 USH2A Health Risk Likely pathogenic —
RS2528087323 USH2A Health Risk Pathogenic —
RS2528087514 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2528087518 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2528087541 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2528087543 USH2A Health Risk Pathogenic —
RS2528087981 USH2A Health Risk Pathogenic —
RS2528088083 USH2A Health Risk Pathogenic —
RS2528089182 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2528103992 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS2528104297 CRB1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2528104465 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS2528104500 CRB1 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS2528104627 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS2528104857 CRB1 Health Risk Likely pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2528105698 CRB1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS2528105974 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS2528106112 MANBA Health Risk Pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS2528106278 NBAS Health Risk Pathogenic —
RS2528106913 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS2528108747 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS2528108972 CRB1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2528109129 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS2528110973 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS2528111983 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS2528112233 NBAS Health Risk Pathogenic —
RS2528112763 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS2528114733 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS2528114749 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS2528114846 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS2528115427 NBAS Health Risk Pathogenic —
RS2528115480 NBAS Health Risk Pathogenic —
RS2528115827 NBAS Health Risk Pathogenic —
RS2528118860 ARPC5 Health Risk Pathogenic Immunodeficiency 113 with autoimmunity and autoinflammation, Immunodeficiency 113 with autoimmunity and autoinflammation
RS2528126418 USH2A Health Risk Pathogenic —
RS2528126432 USH2A Health Risk Pathogenic —
RS2528126437 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2528126640 USH2A Health Risk Likely pathogenic —
RS2528126766 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2528126907 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2528138701 RYR2 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS2528139805 NBAS Health Risk Pathogenic —
RS2528139857 NBAS Health Risk Likely pathogenic —
RS2528143202 DDX59 Health Risk Likely pathogenic —
RS2528146464 NBAS Health Risk Likely pathogenic —
RS2528146906 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS2528147327 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS2528147634 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2528148223 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS2528148331 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2528148484 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS2528148933 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2528148995 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2528149815 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
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