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
RS2046162412 CLN3 Health Risk Pathogenic —
RS2046218391 CLN3 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3
RS2046221354 CLN3 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3
RS2046226928 VPS13C Health Risk Likely pathogenic Autosomal recessive early-onset Parkinson disease 23, Autosomal recessive early-onset Parkinson disease 23
RS2046240661 CLN3 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2046243804 CLN3 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2046246646 KANSL1 Health Risk Pathogenic/Likely pathogenic Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS2046256329 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2046258303 TRAPPC2 Health Risk Pathogenic —
RS2046260021 KANSL1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2046260727 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2046278091 KANSL1 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2046279070 TRAPPC2 Health Risk Pathogenic Spondyloepiphyseal dysplasia tarda, Spondyloepiphyseal dysplasia tarda
RS2046281324 TRAPPC2 Health Risk Pathogenic —
RS2046290303 TRAPPC2 Health Risk Pathogenic Spondyloepiphyseal dysplasia tarda, Spondyloepiphyseal dysplasia tarda
RS2046303697 MYO15A Health Risk Pathogenic —
RS2046303728 MYO15A Health Risk Pathogenic —
RS2046314714 CLN3 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3
RS2046363256 ABCC6 Health Risk Conflicting classifications of pathogenicity ABCC6-related disorder, ABCC6-related disorder
RS2046386900 MYO15A Health Risk Likely pathogenic —
RS2046392476 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2046415471 ITPR1 Health Risk Likely pathogenic Gillespie syndrome, Gillespie syndrome
RS2046440702 TNFRSF11A Health Risk Pathogenic Autosomal recessive osteopetrosis 7, Autosomal recessive osteopetrosis 7
RS2046499843 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2046510028 MYO15A Health Risk Pathogenic —
RS2046512154 MYO15A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2046518776 TYMS Health Risk Pathogenic Dyskeratosis congenita, digenic
RS2046521710 MYO15A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2046539116 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2046575698 ADGRG1 Health Risk Pathogenic —
RS2046581341 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2046598826 TANC2 Health Risk Likely pathogenic Epilepsy, Epilepsy
RS2046600751 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2046600889 TIMP3 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS2046607104 TTN Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS2046633903 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2046675157 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2046702287 NALCN Health Risk Likely pathogenic Hypotonia, infantile
RS2046704290 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2046705692 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2046707580 DOCK8 Health Risk Likely pathogenic Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS2046707868 NEDD4L Health Risk Likely pathogenic Periventricular nodular heterotopia 7, Periventricular nodular heterotopia 7
RS2046713136 KDM6A Health Risk Pathogenic/Likely pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS2046732267 MYO15A Health Risk Pathogenic —
RS2046739414 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2046750269 TANC2 Health Risk Likely pathogenic Developmental delay, Developmental delay
RS2046752611 MYO15A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2046761831 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2046773175 TANGO2 Health Risk Pathogenic/Likely pathogenic Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome, Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
RS2046773972 MYO15A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2046778426 ABCC6 Health Risk Likely pathogenic —
RS2046802180 TCF4 Health Risk Likely pathogenic —
RS2046802842 MYO15A Health Risk Pathogenic —
RS2046807248 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS2046807371 NOTCH3 Health Risk Likely pathogenic —
RS2046815679 FLCN Health Risk Likely pathogenic —
RS2046823775 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2046824297 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS2046827455 NOTCH3 Health Risk Pathogenic Cerebral arteriopathy, autosomal dominant
RS2046832726 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS2046833026 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS2046836342 NOTCH3 Health Risk Likely pathogenic —
RS2046836692 NOTCH3 Health Risk Likely pathogenic Cerebral arteriopathy, autosomal dominant
RS2046837806 NOTCH3 Health Risk Likely pathogenic Cerebral arteriopathy, autosomal dominant
RS2046843049 NOTCH3 Health Risk Likely pathogenic Cerebral arteriopathy, autosomal dominant
RS2046860754 ABCC6 Health Risk Conflicting classifications of pathogenicity —
RS2046866025 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS2046877798 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2046880504 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome 1
RS2046884079 FLCN Health Risk Likely pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS2046888772 NOTCH3 Health Risk Pathogenic/Likely pathogenic —
RS2046893100 VPS13C Health Risk Likely pathogenic Young-onset Parkinson disease, Young-onset Parkinson disease
RS2046896882 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS2046897026 NOTCH3 Health Risk Pathogenic/Likely pathogenic Cerebral arteriopathy, autosomal dominant
RS2046897213 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS2046897246 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS2046897516 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS2046897646 CEP164 Health Risk Pathogenic Nephronophthisis 15, Nephronophthisis 15
RS2046899820 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS2046900264 NOTCH3 Health Risk Likely pathogenic —
RS2046907170 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS2046907944 NOTCH3 Health Risk Likely pathogenic —
RS2046921766 ADGRG1 Health Risk Pathogenic —
RS2046922813 TCF4 Health Risk Pathogenic —
RS2046925676 NOTCH3 Health Risk Pathogenic —
RS2046925963 NOTCH3 Health Risk Pathogenic NOTCH3-related disorder, NOTCH3-related disorder
RS2046926886 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS2046927630 NOTCH3 Health Risk Pathogenic —
RS2046928465 NOTCH3 Health Risk Likely pathogenic —
RS2046928618 NOTCH3 Health Risk Pathogenic/Likely pathogenic Cerebral arteriopathy, autosomal dominant
RS2046929318 NOTCH3 Health Risk Pathogenic —
RS2046931673 NOTCH3 Health Risk Pathogenic/Likely pathogenic Lateral meningocele syndrome, Myofibromatosis
RS2046931882 NOTCH3 Health Risk Likely pathogenic —
RS2046932414 NOTCH3 Health Risk Likely pathogenic Cerebral arteriopathy, autosomal dominant
RS2046932510 OBSCN Health Risk Pathogenic —
RS2046933681 NOTCH3 Health Risk Likely pathogenic Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
RS2046934287 NOTCH3 Health Risk Likely pathogenic —
RS2046934971 NOTCH3 Health Risk Likely pathogenic Cerebral arteriopathy, autosomal dominant
RS2046935167 NOTCH3 Health Risk Pathogenic/Likely pathogenic Cerebral arteriopathy, autosomal dominant
RS2046935672 NOTCH3 Health Risk Pathogenic —
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