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
RS2134277165 CAMK2G Health Risk Likely pathogenic Intellectual developmental disorder 59, Intellectual developmental disorder 59
RS2134278222 MYPN Health Risk Pathogenic Dilated cardiomyopathy 1KK, Dilated cardiomyopathy 1KK
RS2134282528 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2134285853 HPS5 Health Risk Pathogenic —
RS2134286994 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2134287017 KMT2A Health Risk Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2134287093 KMT2A Health Risk Likely pathogenic See cases, See cases
RS2134287568 KMT2A Health Risk Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2134287624 KMT2A Health Risk Likely pathogenic —
RS2134287683 KMT2A Health Risk Pathogenic —
RS2134287969 HPS5 Health Risk Likely pathogenic —
RS2134293919 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2134296579 HPS5 Health Risk Pathogenic —
RS2134299169 KMT2A Health Risk Likely pathogenic —
RS2134300034 MYPN Health Risk Pathogenic Dilated cardiomyopathy 1KK, Dilated cardiomyopathy 1KK
RS2134300317 KMT2A Health Risk Pathogenic —
RS2134300616 KMT2A Health Risk Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2134300916 KMT2A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2134301341 KMT2A Health Risk Pathogenic —
RS2134302083 PCDH15 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2134302220 RDX Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 24, Autosomal recessive nonsyndromic hearing loss 24
RS2134302287 SOX6 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2134307362 CWF19L1 Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 17, Autosomal recessive spinocerebellar ataxia 17
RS2134311608 KMT2A Health Risk Pathogenic/Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2134326016 HPS5 Health Risk Pathogenic —
RS2134327570 KMT2A Health Risk Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2134328020 KMT2A Health Risk Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2134332825 KMT2A Health Risk Pathogenic —
RS2134334628 HPS5 Health Risk Pathogenic —
RS2134334652 HPS5 Health Risk Pathogenic —
RS2134335014 KMT2A Health Risk Likely pathogenic Neurodevelopmental disorder, Wiedemann-Steiner syndrome
RS2134338484 CNNM2 Health Risk Likely pathogenic See cases, Renal hypomagnesemia 6
RS2134349851 KMT2A Health Risk Pathogenic —
RS2134351311 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2134355176 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2134357027 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2134363728 RDX Health Risk Pathogenic —
RS2134364635 RDX Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 24, Autosomal recessive nonsyndromic hearing loss 24
RS2134366416 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2134367400 KMT2A Health Risk Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2134367981 KMT2A Health Risk Pathogenic See cases, Wiedemann-Steiner syndrome
RS2134381253 KMT2A Health Risk Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2134381992 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2134382250 FANCC Health Risk Pathogenic Fanconi anemia complementation group C, Fanconi anemia complementation group C
RS2134382573 FANCC Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2134386428 KMT2A Health Risk Pathogenic —
RS2134387390 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2134387647 PCDH15 Health Risk Likely pathogenic —
RS2134389341 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2134393031 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2134395213 KMT2A Health Risk Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2134395799 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2134397119 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2134398464 KMT2A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2134400611 KMT2A Health Risk Conflicting classifications of pathogenicity Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2134401291 KMT2A Health Risk Pathogenic —
RS2134402509 KMT2A Health Risk Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2134402966 KMT2A Health Risk Pathogenic —
RS2134404192 KMT2A Health Risk Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2134405375 KMT2A Health Risk Pathogenic —
RS2134405469 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2134406005 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2134408087 KMT2A Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2134409465 KMT2A Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2134409637 BEST1 Health Risk Likely pathogenic —
RS2134409684 BEST1 Health Risk Pathogenic/Likely pathogenic Vitelliform macular dystrophy 2, Vitelliform macular dystrophy 2
RS2134409720 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2134410058 BEST1 Health Risk Pathogenic —
RS2134413189 KMT2A Health Risk Pathogenic —
RS2134413427 KMT2A Health Risk Pathogenic —
RS2134419405 KMT2A Health Risk Pathogenic —
RS2134422951 HPS5 Health Risk Likely pathogenic —
RS2134423817 HPS5 Health Risk Likely pathogenic —
RS2134425489 BEST1 Health Risk Pathogenic —
RS2134425822 BEST1 Health Risk Pathogenic —
RS2134426262 B3GAT3 Health Risk Likely pathogenic Larsen-like syndrome, B3GAT3 type
RS2134429776 BEST1 Health Risk Likely pathogenic —
RS2134429825 BEST1 Health Risk Likely pathogenic —
RS2134430043 BEST1 Health Risk Likely pathogenic —
RS2134430116 BEST1 Health Risk Likely pathogenic Vitelliform macular dystrophy 2, Vitelliform macular dystrophy 2
RS2134430191 BEST1 Health Risk Pathogenic —
RS2134430922 TCIRG1 Health Risk Likely pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS2134430935 KMT2A Health Risk Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2134431662 KMT2A Health Risk Likely pathogenic —
RS2134432441 TCIRG1 Health Risk Pathogenic —
RS2134432498 TCIRG1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS2134436277 TCIRG1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS2134437355 BEST1 Health Risk Pathogenic —
RS2134437954 TCIRG1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS2134437974 TCIRG1 Health Risk Pathogenic —
RS2134438856 TCIRG1 Health Risk Pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS2134440057 OAT Health Risk Pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS2134440422 TCIRG1 Health Risk Pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS2134440476 BEST1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2134440572 OAT Health Risk Pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS2134440586 BEST1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2134440659 OAT Health Risk Pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS2134441979 TCIRG1 Health Risk Pathogenic —
RS2134442342 TCIRG1 Health Risk Pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS2134444981 BEST1 Health Risk Pathogenic Vitelliform macular dystrophy 2, Vitelliform macular dystrophy 2
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