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
RS1657923690 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS1657929865 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS1657935515 FLAD1 Health Risk Likely pathogenic —
RS1657939192 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1657939866 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2
RS1657940058 POMGNT1 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS1657950450 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS1657955465 USH2A Health Risk Pathogenic —
RS1657961646 USH2A Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1657965422 USH2A Health Risk Pathogenic Usher syndrome type 2, Retinitis pigmentosa 39
RS1657973895 USH2A Health Risk Pathogenic —
RS1657976025 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1657976232 USH2A Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 39
RS1657981723 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS1657981991 PRPF3 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1657987278 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1657992030 USH2A Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1657992342 USH2A Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 39
RS1657992486 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1657996197 USH2A Health Risk Pathogenic Usher syndrome type 2, Usher syndrome type 2A
RS1657997491 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa 39
RS1657997730 USH2A Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 39
RS1658036582 POGZ Health Risk Likely pathogenic —
RS1658038847 SERPINC1 Health Risk Likely pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS1658057278 PRPF3 Health Risk Likely pathogenic —
RS1658058398 CACNA1E Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 69
RS1658062720 PRPF3 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1658063448 PRPF3 Health Risk Likely pathogenic Retinitis pigmentosa 18, Retinitis pigmentosa 18
RS1658064113 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
RS1658082808 PRPF3 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1658103320 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS1658105150 POGZ Health Risk Likely pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS1658106325 CENPF Health Risk Likely pathogenic Stromme syndrome, Stromme syndrome
RS1658118461 H3-3A Health Risk Likely pathogenic Bryant-Li-Bhoj neurodevelopmental syndrome 1, Bryant-Li-Bhoj neurodevelopmental syndrome 1
RS1658119267 H3-3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Bryant-Li-Bhoj neurodevelopmental syndrome 1
RS1658120232 POGZ Health Risk Pathogenic —
RS1658121882 H3-3A Health Risk Pathogenic/Likely pathogenic Intellectual disability, Global developmental delay
RS1658149520 CACNA1E Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1658174717 CR2 Health Risk Likely pathogenic Immunodeficiency, common variable
RS1658178709 USH2A Health Risk Likely pathogenic —
RS1658179729 USH2A Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1658186071 USH2A Health Risk Pathogenic —
RS1658202227 RAB3GAP2 Health Risk Pathogenic Martsolf syndrome, Warburg micro syndrome 2
RS1658215085 POMGNT1 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS1658215662 POMGNT1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS1658223688 CR2 Health Risk Pathogenic Immunodeficiency, common variable
RS1658278935 POMGNT1 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS1658320297 CR2 Health Risk Pathogenic Immunodeficiency, common variable
RS1658342879 SLC19A2 Health Risk Pathogenic Megaloblastic anemia, thiamine-responsive
RS1658344975 SLC19A2 Health Risk Pathogenic —
RS1658347337 REN Health Risk Pathogenic/Likely pathogenic Familial juvenile hyperuricemic nephropathy type 2, Familial juvenile hyperuricemic nephropathy type 2
RS1658353874 POMGNT1 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS1658353990 POMGNT1 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS1658354243 SLC19A2 Health Risk Pathogenic —
RS1658356896 SLC19A2 Health Risk Likely pathogenic —
RS1658357615 CR2 Health Risk Pathogenic Immunodeficiency, common variable
RS1658363329 POMGNT1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS1658367194 POMGNT1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS1658371275 CR2 Health Risk Pathogenic Immunodeficiency, common variable
RS1658373672 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS1658388636 CR2 Health Risk Likely pathogenic Immunodeficiency, common variable
RS1658437185 RAB3GAP2 Health Risk Likely pathogenic RAB3GAP2-related disorder, RAB3GAP2-related disorder
RS1658476495 COQ8A Health Risk Pathogenic —
RS1658479678 COQ8A Health Risk Likely pathogenic Coenzyme Q10 deficiency, primary
RS1658539563 SLC19A2 Health Risk Pathogenic Sensorineural hearing loss disorder, Sensorineural hearing loss disorder
RS1658540031 SLC19A2 Health Risk Likely pathogenic —
RS1658552670 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
RS1658562210 CR2 Health Risk Likely pathogenic Immunodeficiency, common variable
RS1658577400 RAB3GAP2 Health Risk Pathogenic —
RS1658614059 RAB3GAP2 Health Risk Likely pathogenic Martsolf syndrome, Martsolf syndrome
RS1658637462 ASPM Health Risk Pathogenic —
RS1658652635 CRB1 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1658656722 CRB1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1658666393 ASPM Health Risk Pathogenic —
RS1658671768 CRB1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS1658673791 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS1658684590 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS1658688864 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS1658689096 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS1658690599 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS1658691162 CRB1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS1658692554 CRB1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS1658697788 CRB1 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS1658699227 CRB1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS1658700284 CRB1 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS1658734768 TNNT2 Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS1658762654 CACNA1E Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 69
RS1658870968 TGFB2 Health Risk Pathogenic Loeys-Dietz syndrome 4, Loeys-Dietz syndrome 4
RS1658873227 TGFB2 Health Risk Pathogenic Loeys-Dietz syndrome 4, Loeys-Dietz syndrome 4
RS1658915833 NR3C1 Health Risk Pathogenic —
RS1658918693 ABCA4 Health Risk Pathogenic Retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS1658950895 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1658967336 RYR2 Health Risk Pathogenic Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1
RS1658971260 NRAS Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder, RASopathy
RS1658995249 ABCA4 Health Risk Likely pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS1659014112 GABRD Health Risk Pathogenic Epilepsy, idiopathic generalized
RS1659051255 ABCA4 Health Risk Pathogenic ABCA4-related retinopathy, ABCA4-related retinopathy
RS1659061509 ABCA4 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1659063174 COPA Health Risk Pathogenic —
RS1659114692 PPOX Health Risk Likely pathogenic —
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