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
RS2527654209 USH2A Health Risk Pathogenic Usher syndrome, Usher syndrome
RS2527654487 USH2A Health Risk Pathogenic —
RS2527654728 USH2A Health Risk Pathogenic —
RS2527654883 USH2A Health Risk Pathogenic —
RS2527655187 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2527655355 USH2A Health Risk Pathogenic —
RS2527655487 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2527655909 USH2A Health Risk Pathogenic —
RS2527664861 KIF14 Health Risk Likely pathogenic Joubert syndrome and related disorders, Joubert syndrome and related disorders
RS2527669033 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527697526 RYR2 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1
RS2527714206 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527714738 AGT Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis of genetic origin, Renal tubular dysgenesis of genetic origin
RS2527715135 CRB1 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS2527715389 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2527715700 CRB1 Health Risk Likely pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2527715988 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS2527717111 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS2527717700 AGT Health Risk Pathogenic —
RS2527720243 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2527720294 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2527720449 USH2A Health Risk Pathogenic —
RS2527720547 USH2A Health Risk Pathogenic —
RS2527720554 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2527722597 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527723147 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527725724 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS2527725818 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2527732015 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527734131 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527754384 DISP1 Health Risk Pathogenic —
RS2527761127 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527761995 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527769820 USH2A Health Risk Pathogenic —
RS2527770001 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2527770006 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2527770122 USH2A Health Risk Pathogenic —
RS2527773195 RYR2 Health Risk Likely pathogenic —
RS2527776609 USH2A Health Risk Pathogenic —
RS2527776733 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2527777059 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2527777931 USH2A Health Risk Pathogenic —
RS2527777992 USH2A Health Risk Pathogenic —
RS2527778330 USH2A Health Risk Pathogenic —
RS2527778358 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2527778442 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2527778579 USH2A;USH2A-AS2 Health Risk Likely pathogenic Usher syndrome, Usher syndrome
RS2527778592 USH2A Health Risk Likely pathogenic —
RS2527778968 LBR Health Risk Likely pathogenic LBR-related disorder, LBR-related disorder
RS2527780456 PTPRC Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS2527781764 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
RS2527783212 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527783445 RYR2 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2527784533 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527784909 RYR2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS2527785359 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS2527785680 RYR2 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS2527785804 RYR2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS2527786424 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527787768 RYR2 Health Risk Likely pathogenic —
RS2527787867 PTPRC Health Risk Likely pathogenic Immunodeficiency 104, Immunodeficiency 104
RS2527790378 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS2527791916 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinal dystrophy
RS2527791968 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2527792129 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2527792345 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2527792724 USH2A Health Risk Pathogenic —
RS2527792730 USH2A Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2527794825 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia, Catecholaminergic polymorphic ventricular tachycardia 1
RS2527801028 PTPRC Health Risk Likely pathogenic Immunodeficiency 104, Immunodeficiency 104
RS2527804925 USH2A;USH2A-AS2 Health Risk Likely pathogenic Usher syndrome, Usher syndrome
RS2527805207 USH2A Health Risk Pathogenic —
RS2527805362 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2527805437 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527805483 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2527805640 LYST Health Risk Pathogenic/Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527808332 USH2A Health Risk Pathogenic —
RS2527808361 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2527808650 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2527808793 USH2A Health Risk Pathogenic —
RS2527808870 USH2A Health Risk Pathogenic —
RS2527808923 USH2A Health Risk Pathogenic —
RS2527811287 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527813203 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527813410 USH2A Health Risk Likely pathogenic Sensorineural hearing loss disorder, Retinal dystrophy
RS2527813624 USH2A Health Risk Conflicting classifications of pathogenicity —
RS2527818757 PTPRC Health Risk Pathogenic Immunodeficiency 105, Immunodeficiency 105
RS2527819413 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2527822176 LBR Health Risk Pathogenic —
RS2527828682 LMNA Health Risk Likely pathogenic —
RS2527828780 LMNA Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2527829303 LMNA Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2527829451 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2527829950 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2527830691 LMNA Health Risk Pathogenic Congenital muscular dystrophy due to LMNA mutation, Congenital muscular dystrophy due to LMNA mutation
RS2527830705 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2527831101 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2527832046 LMNA Health Risk Pathogenic Primary dilated cardiomyopathy, Dilated cardiomyopathy 1A
RS2527832076 LMNA Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiovascular phenotype
RS2527832569 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
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