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
RS2134012580 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS2134012749 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS2134013121 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type B
RS2134013240 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS2134013368 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS2134017039 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS2134017306 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS2134017443 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS2134017711 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type B
RS2134017940 LGI1 Health Risk Pathogenic Autosomal dominant epilepsy with auditory features, Autosomal dominant epilepsy with auditory features
RS2134017952 LGI1 Health Risk Pathogenic Autosomal dominant epilepsy with auditory features, Autosomal dominant epilepsy with auditory features
RS2134018090 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS2134019797 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type B
RS2134020777 LGI1 Health Risk Likely pathogenic Autosomal dominant epilepsy with auditory features, Autosomal dominant epilepsy with auditory features
RS2134020912 LGI1 Health Risk Pathogenic —
RS2134020917 LGI1 Health Risk Likely pathogenic Epilepsy, familial temporal lobe
RS2134021058 SMPD1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type B
RS2134021440 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS2134021516 LGI1 Health Risk Pathogenic Autosomal dominant epilepsy with auditory features, Autosomal dominant epilepsy with auditory features
RS2134021618 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS2134022652 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS2134023240 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type B
RS2134023610 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS2134023663 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS2134024060 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A
RS2134024349 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type B
RS2134025769 OTOG Health Risk Pathogenic —
RS2134026453 LGI1 Health Risk Likely pathogenic Epilepsy, familial temporal lobe
RS2134026513 LGI1 Health Risk Pathogenic Autosomal dominant epilepsy with auditory features, Autosomal dominant epilepsy with auditory features
RS2134026684 LGI1 Health Risk Pathogenic Autosomal dominant epilepsy with auditory features, Autosomal dominant epilepsy with auditory features
RS2134026711 PDZD7 Health Risk Pathogenic —
RS2134026964 LGI1 Health Risk Pathogenic Genitopatellar syndrome, Epilepsy
RS2134027169 LGI1 Health Risk Pathogenic Autosomal dominant epilepsy with auditory features, Autosomal dominant epilepsy with auditory features
RS2134027207 LGI1 Health Risk Likely pathogenic —
RS2134048726 RRAS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome, Germinoma
RS2134049595 PDZD7 Health Risk Conflicting classifications of pathogenicity —
RS2134050486 BAG3 Health Risk Pathogenic Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS2134050674 BAG3 Health Risk Pathogenic Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS2134058885 CD3D Health Risk Likely pathogenic Immunodeficiency 19, Immunodeficiency 19
RS2134063372 BAG3 Health Risk Pathogenic Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS2134063421 BAG3 Health Risk Pathogenic/Likely pathogenic Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS2134064890 BAG3 Health Risk Likely pathogenic Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS2134064900 BAG3 Health Risk Likely pathogenic Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS2134064943 BAG3 Health Risk Pathogenic Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS2134065052 BAG3 Health Risk Pathogenic Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS2134065084 BAG3 Health Risk Pathogenic/Likely pathogenic Myocarditis, Primary dilated cardiomyopathy
RS2134065136 BAG3 Health Risk Pathogenic Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS2134065158 BAG3 Health Risk Pathogenic Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS2134065221 BAG3 Health Risk Pathogenic —
RS2134065242 BAG3 Health Risk Pathogenic Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS2134065278 BAG3 Health Risk Pathogenic Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS2134065350 BAG3 Health Risk Pathogenic Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS2134065363 BAG3 Health Risk Pathogenic Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS2134068305 CD3G Health Risk Pathogenic Combined immunodeficiency due to CD3gamma deficiency, Combined immunodeficiency due to CD3gamma deficiency
RS2134068635 BAG3 Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS2134068763 BAG3 Health Risk Pathogenic Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS2134068813 BAG3 Health Risk Pathogenic Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS2134068860 BAG3 Health Risk Pathogenic Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS2134068940 BAG3 Health Risk Pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS2134068984 BAG3 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS2134069115 BAG3 Health Risk Pathogenic/Likely pathogenic —
RS2134069217 BAG3 Health Risk Pathogenic Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS2134069248 BAG3 Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS2134069295 BAG3 Health Risk Likely pathogenic Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS2134069699 CD3G Health Risk Pathogenic Combined immunodeficiency due to CD3gamma deficiency, Combined immunodeficiency due to CD3gamma deficiency
RS2134074165 PDZD7 Health Risk Pathogenic Hearing loss, autosomal recessive 57
RS2134076706 EBF3 Health Risk Likely pathogenic See cases, See cases
RS2134081192 CYP17A1 Health Risk Pathogenic 17-alpha-hydroxylase/17, 20-lyase deficiency
RS2134082367 CYP17A1 Health Risk Pathogenic Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
RS2134082641 CYP17A1 Health Risk Pathogenic —
RS2134082781 CYP17A1 Health Risk Pathogenic —
RS2134082911 NDUFV1 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 4
RS2134083298 CYP17A1 Health Risk Pathogenic —
RS2134083338 CYP17A1 Health Risk Pathogenic —
RS2134083893 CYP17A1 Health Risk Pathogenic —
RS2134083915 CYP17A1 Health Risk Pathogenic —
RS2134085151 NDUFV1 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 4
RS2134085596 CYP17A1 Health Risk Pathogenic —
RS2134085637 CYP17A1 Health Risk Pathogenic —
RS2134085666 CYP17A1 Health Risk Pathogenic —
RS2134088502 PDZD7 Health Risk Pathogenic Hearing loss, autosomal recessive 57
RS2134088808 OTOG Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B
RS2134089305 UBE4A Health Risk Pathogenic Neurodevelopmental disorder with hypotonia and gross motor and speech delay, Neurodevelopmental disorder with hypotonia and gross motor and speech delay
RS2134090994 OTOG Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B
RS2134091591 OTOG Health Risk Likely pathogenic Nonsyndromic genetic hearing loss, Nonsyndromic genetic hearing loss
RS2134092709 UBE4A Health Risk Pathogenic UBE4A-related disorder, UBE4A-related disorder
RS2134092983 BLNK Health Risk Likely pathogenic Agammaglobulinemia 4, autosomal recessive
RS2134093224 PTH Health Risk Pathogenic Hypoparathyroidism, familial isolated 1
RS2134093283 PTH Health Risk Likely pathogenic —
RS2134097007 KCNQ1 Health Risk Pathogenic/Likely pathogenic Long QT syndrome, Long QT syndrome
RS2134100484 PDZD7 Health Risk Pathogenic —
RS2134100639 ERLIN1 Health Risk Likely pathogenic Hereditary spastic paraplegia, Hereditary spastic paraplegia
RS2134108087 EBF3 Health Risk Pathogenic Hypotonia, ataxia
RS2134108223 PCDH15 Health Risk Pathogenic —
RS2134108332 EBF3 Health Risk Conflicting classifications of pathogenicity Hypotonia, ataxia
RS2134121169 SHOC2 Health Risk Likely pathogenic Noonan syndrome-like disorder with loose anagen hair 1, Noonan syndrome-like disorder with loose anagen hair 1
RS2134121762 SHOC2 Health Risk Likely pathogenic Noonan syndrome, Noonan syndrome
RS2134129636 EBF3 Health Risk Likely pathogenic Hypotonia, ataxia
RS2134129705 EBF3 Health Risk Pathogenic Hypotonia, ataxia
RS2134129845 EBF3 Health Risk Likely pathogenic Hypotonia, ataxia
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