SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS879253850 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS879253851 MMUT Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia
RS879253852 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS879253853 VPS13C Health Risk Pathogenic Parkinson disease, Parkinson disease
RS879253856 ARID1B Health Risk Pathogenic 6 conditions, 6 conditions
RS879253857 TBX6 Health Risk Pathogenic Spondylocostal dysostosis 5, Spondylocostal dysostosis 5
RS879253858 MPZ Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease
RS879253859 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4C
RS879253860 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS879253861 MFN2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease type 2A2
RS879253862 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease
RS879253863 TRIM2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2R, Charcot-Marie-Tooth disease type 2R
RS879253864 ADCY6 Health Risk Conflicting classifications of pathogenicity Lethal congenital contracture syndrome 8, Lethal congenital contracture syndrome 8
RS879253865 IGHMBP2 Health Risk Pathogenic Autosomal recessive distal spinal muscular atrophy 1, Autosomal recessive distal spinal muscular atrophy 1
RS879253866 SETX Health Risk Pathogenic Spinocerebellar ataxia, autosomal recessive
RS879253867 AIMP1 Health Risk Pathogenic Hypomyelinating leukodystrophy 3, Hypomyelinating leukodystrophy 3
RS879253868 DNAJB2 Health Risk Likely pathogenic Neuronopathy, distal hereditary motor
RS879253869 PMP2 Health Risk Likely pathogenic Peripheral neuropathy, Charcot-Marie-Tooth disease
RS879253870 TFAP2B Health Risk Pathogenic Patent ductus arteriosus 2, Patent ductus arteriosus 2
RS879253871 TFAP2B Health Risk Pathogenic Patent ductus arteriosus 2, Patent ductus arteriosus 2
RS879253872 PRDM6 Health Risk Pathogenic Patent ductus arteriosus 3, Patent ductus arteriosus 3
RS879253873 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS879253874 DNM1L Health Risk Likely pathogenic Encephalopathy, lethal
RS879253875 GRIN2A Health Risk Likely pathogenic Dystonia, intellectual disability and language impairment
RS879253878 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS879253879 BARD1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS879253880 BARD1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS879253881 DYNC1H1 Health Risk Pathogenic DYNC1H1-related neurodevelopmental disorders, Charcot-Marie-Tooth disease axonal type 2O
RS879253882 ELANE Health Risk Pathogenic Cyclical neutropenia, Decreased total neutrophil count
RS879253883 KCNC3 Health Risk Pathogenic Spinocerebellar ataxia type 13, Spinocerebellar ataxia type 13
RS879253886 IGHMBP2 Health Risk Pathogenic —
RS879253887 IGHMBP2 Health Risk Pathogenic/Likely pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS879253888 KIF1A Health Risk Likely pathogenic Inborn genetic diseases, Intellectual disability
RS879253889 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS879253890 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS879253891 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS879253892 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS879253894 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1
RS879253898 LMNA Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Charcot-Marie-Tooth disease type 2
RS879253899 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colon cancer, Hereditary nonpolyposis colorectal neoplasms
RS879253902 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS879253903 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS879253904 KIF1A Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 9
RS879253905 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1
RS879253909 GJB1 Health Risk Likely pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease
RS879253911 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS879253912 GRIN2B Health Risk Likely pathogenic —
RS879253913 LMNA Health Risk Pathogenic —
RS879253917 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Ovarian serous cystadenocarcinoma
RS879253919 PRPS1 Health Risk Likely pathogenic Charcot-Marie-Tooth Neuropathy X, Arts syndrome
RS879253922 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS879253925 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease
RS879253926 FIG4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Amyotrophic lateral sclerosis
RS879253927 NEFL Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease
RS879253929 LMNA Health Risk Likely pathogenic —
RS879253931 GRIN2B Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 27
RS879253932 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS879253934 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS879253935 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X
RS879253937 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Autosomal dominant cerebellar ataxia
RS879253938 ATP7A Health Risk Pathogenic —
RS879253939 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2
RS879253942 TP53 Health Risk Pathogenic/Likely pathogenic Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS879253945 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS879253946 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS879253952 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary breast ovarian cancer syndrome
RS879253954 PMP22 Health Risk Pathogenic Dejerine-Sottas disease, Charcot-Marie-Tooth disease
RS879253955 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS879253956 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 13
RS879253957 MFN2 Health Risk Likely pathogenic Multiple system atrophy, cerebellar type
RS879253960 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS879253961 DYNC1H1 Health Risk Pathogenic Intellectual disability, autosomal dominant 13
RS879253962 SLC52A2 Health Risk Likely pathogenic —
RS879253970 PRPS1 Health Risk Likely pathogenic —
RS879253971 DYNC1H1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 13
RS879253972 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS879253975 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS879253976 KIF1A Health Risk Conflicting classifications of pathogenicity Intellectual disability, Hereditary spastic paraplegia
RS879253979 DYNC1H1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease axonal type 2O, Pes cavus
RS879253984 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS879253986 PALB2 Health Risk Pathogenic —
RS879253988 SBF2 Health Risk Pathogenic —
RS879253989 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia
RS879253990 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS879253991 KIF1A Health Risk Likely pathogenic —
RS879253993 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS879253994 SCN9A Health Risk Pathogenic Paroxysmal extreme pain disorder, Paroxysmal extreme pain disorder
RS879253995 GJB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease
RS879253998 KIF1A Health Risk Likely pathogenic —
RS879253999 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS879254001 GAN Health Risk Pathogenic —
RS879254004 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS879254005 GDAP1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A
RS879254009 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS879254010 MFN2 Health Risk Likely pathogenic —
RS879254011 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS879254012 GJB1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease
RS879254013 GRIN2B Health Risk Likely pathogenic —
RS879254014 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, APC-related disorder
RS879254015 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Familial cancer of breast
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