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
RS2087568378 PCNT Health Risk Pathogenic —
RS2087581122 TCN2 Health Risk Pathogenic/Likely pathogenic Transcobalamin II deficiency, Pancytopenia
RS2087582545 TCN2 Health Risk Pathogenic Transcobalamin II deficiency, Transcobalamin II deficiency
RS2087597945 TCN2 Health Risk Likely pathogenic Transcobalamin II deficiency, Transcobalamin II deficiency
RS2087603141 PCNT Health Risk Pathogenic —
RS2087613070 DNAAF1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2087622708 PLA2G6 Health Risk Pathogenic/Likely pathogenic Infantile neuroaxonal dystrophy, Autosomal recessive Parkinson disease 14
RS2087627455 PLA2G6 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, PLA2G6-related disorder
RS2087630072 TCN2 Health Risk Pathogenic Transcobalamin II deficiency, Transcobalamin II deficiency
RS2087653225 FANCD2 Health Risk Pathogenic Fanconi anemia complementation group D2, Fanconi anemia complementation group D2
RS2087674573 FANCD2 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2087720794 TCN2 Health Risk Pathogenic Transcobalamin II deficiency, Transcobalamin II deficiency
RS2087769756 PCNT Health Risk Pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS2087811676 TCN2 Health Risk Likely pathogenic —
RS2087817491 SMARCA4 Health Risk Likely pathogenic Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS2087825562 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2087831882 FCHO1 Health Risk Pathogenic Immunodeficiency 76, Immunodeficiency 76
RS2087842345 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2087887269 DYSF Health Risk Pathogenic/Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS2087896961 ASXL2 Health Risk Conflicting classifications of pathogenicity —
RS2087900330 DYSF Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1
RS2087918488 CFAP43 Health Risk Likely pathogenic Normal pressure hydrocephalus, Normal pressure hydrocephalus
RS2088000353 - Health Risk Likely pathogenic Sudden infant death-dysgenesis of the testes syndrome, Sudden infant death-dysgenesis of the testes syndrome
RS2088008490 DEPDC5 Health Risk Pathogenic Inborn genetic diseases, Familial focal epilepsy with variable foci
RS2088011240 DEPDC5 Health Risk Likely pathogenic Familial focal epilepsy with variable foci, Epilepsy
RS2088021814 ASXL2 Health Risk Likely pathogenic —
RS2088072907 PLA2G6 Health Risk Likely pathogenic Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS2088073420 PCDH15 Health Risk Pathogenic —
RS2088081974 PLA2G6 Health Risk Likely pathogenic Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B
RS2088083821 ASXL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2088115626 TSC2 Health Risk Pathogenic —
RS2088122285 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2088130375 PDE6A Health Risk Pathogenic —
RS2088167973 DEPDC5 Health Risk Likely pathogenic Epilepsy, familial focal
RS2088169859 HPS4 Health Risk Likely pathogenic —
RS2088176556 DEPDC5 Health Risk Likely pathogenic Epilepsy, familial focal
RS2088191243 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2088238871 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2088245783 TTN Health Risk Pathogenic Dilated cardiomyopathy 1G, Early-onset myopathy with fatal cardiomyopathy
RS2088261600 DNAAF1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2088278756 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2088290505 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2088299549 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2088303841 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2088359285 PCDH15 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2088385424 TSC2 Health Risk Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2088388374 TSC2 Health Risk Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2088397098 ASXL2 Health Risk Conflicting classifications of pathogenicity —
RS2088453139 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2088476977 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2088491412 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2088551822 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2088559453 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2088564736 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2088578781 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS2088581254 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Isolated focal cortical dysplasia type II
RS2088597912 PRKDC Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency
RS2088601317 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS2088612933 HEXA Health Risk Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS2088620169 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS2088633060 DNAAF1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2088635332 HEXA Health Risk Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS2088635505 HEXA Health Risk Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS2088635583 HEXA Health Risk Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS2088652401 ABHD12 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2088660373 HEXA Health Risk Pathogenic/Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS2088660599 HEXA Health Risk Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS2088664194 HEXA Health Risk Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS2088690227 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS2088690482 HEXA Health Risk Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS2088690950 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis 2
RS2088702417 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2088708544 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS2088710706 SMARCA4 Health Risk Likely pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2088712889 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2088721594 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2088721832 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS2088724288 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS2088732981 HEXA Health Risk Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS2088733143 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS2088733629 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS2088733862 HEXA Health Risk Pathogenic/Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS2088765656 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS2088766427 HEXA Health Risk Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS2088783222 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS2088784856 HEXA Health Risk Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS2088785055 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS2088785868 HEXA Health Risk Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS2088813126 PLA2G6 Health Risk Pathogenic —
RS2088917801 DEPDC5 Health Risk Likely pathogenic —
RS2088927807 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2088931795 TSC2 Health Risk Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2088933078 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2088938668 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2088950824 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS2088999811 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2089023572 PLA2G6 Health Risk Pathogenic Inborn genetic diseases, Infantile neuroaxonal dystrophy
RS2089059318 HEXA Health Risk Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS2089115544 ABHD12 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2089169741 DYSF Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1
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