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
RS2142101007 FAH Health Risk Pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2142101046 FAH Health Risk Pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2142101078 ETFA Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2142101647 FAH Health Risk Pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2142103306 FAH Health Risk Pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2142105483 FAH Health Risk Pathogenic/Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2142105509 FAH Health Risk Pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2142105542 FAH Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2142107894 FAH Health Risk Pathogenic Tyrosinemia type I, Nonpapillary renal cell carcinoma
RS2142112670 FAH Health Risk Pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2142117372 SUZ12 Health Risk Pathogenic —
RS2142117453 SUZ12 Health Risk Pathogenic Imagawa-Matsumoto syndrome, Imagawa-Matsumoto syndrome
RS2142182514 COX10 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 3
RS2142212748 F7 Health Risk Likely pathogenic Factor VII deficiency, Factor VII deficiency
RS2142213971 SUZ12 Health Risk Likely pathogenic —
RS2142215091 SUZ12 Health Risk Likely pathogenic Imagawa-Matsumoto syndrome, Imagawa-Matsumoto syndrome
RS2142215876 SUZ12 Health Risk Likely pathogenic Imagawa-Matsumoto syndrome, Non-immune hydrops fetalis
RS2142222219 SUZ12 Health Risk Pathogenic Imagawa-Matsumoto syndrome, Imagawa-Matsumoto syndrome
RS2142222377 SUZ12 Health Risk Likely pathogenic Imagawa-Matsumoto syndrome, Imagawa-Matsumoto syndrome
RS2142228734 PEX12 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS2142228928 PEX12 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS2142228982 PEX12 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS2142229072 PEX12 Health Risk Likely pathogenic —
RS2142229154 F7 Health Risk Likely pathogenic Congenital factor VII deficiency, Congenital factor VII deficiency
RS2142229406 F7 Health Risk Pathogenic —
RS2142229513 F7 Health Risk Likely pathogenic Factor VII deficiency, Factor VII deficiency
RS2142230388 PEX12 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS2142230667 PEX12 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS2142230890 PEX12 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS2142230957 PEX12 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS2142231111 PEX12 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS2142231201 PEX12 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS2142231221 PEX12 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS2142231234 PEX12 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS2142231614 PEX12 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS2142232799 F7 Health Risk Likely pathogenic Congenital factor VII deficiency, Congenital factor VII deficiency
RS2142232898 F7 Health Risk Likely pathogenic Congenital factor VII deficiency, Congenital factor VII deficiency
RS2142234775 F7 Health Risk Pathogenic Factor VII deficiency, Factor VII deficiency
RS2142236482 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2142236554 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2142240125 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2142241919 MYO15A Health Risk Pathogenic —
RS2142242418 MYO15A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2142243946 MYO15A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2142244823 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2142244867 MYO15A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2142245203 MYO15A Health Risk Pathogenic —
RS2142250624 PALB2 Health Risk Likely pathogenic Malignant tumor of breast, Malignant tumor of breast
RS2142251164 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2142251364 PALB2 Health Risk Likely pathogenic Malignant tumor of breast, Hereditary cancer-predisposing syndrome
RS2142251406 MYO15A Health Risk Pathogenic —
RS2142251992 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2142252096 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2142252136 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2142252484 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2142252781 PALB2 Health Risk Pathogenic/Likely pathogenic Ovarian carcinoma, Breast and/or ovarian cancer
RS2142252950 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2142253220 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2142253411 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2142253567 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2142253658 PALB2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2142254226 MYO15A Health Risk Pathogenic —
RS2142254289 PALB2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2142254584 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2142255767 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Familial cancer of breast
RS2142258855 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2142263398 EPB42 Health Risk Likely pathogenic Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
RS2142263659 LIG3 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 20 (mngie type), Mitochondrial DNA depletion syndrome 20 (mngie type)
RS2142266216 CERS3 Health Risk Likely pathogenic —
RS2142271053 PALB2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2142271504 PALB2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2142271728 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2142271759 PALB2 Health Risk Likely pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2142272095 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2142273197 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2142273676 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2142274411 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2142274423 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2142274433 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2142274636 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2142280018 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2142282007 MYO15A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2142283941 MYO15A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2142286963 LIG3 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 20 (mngie type), Mitochondrial DNA depletion syndrome 20 (mngie type)
RS2142289928 MYH2 Health Risk Pathogenic/Likely pathogenic Myopathy, proximal
RS2142290339 MYH2 Health Risk Likely pathogenic Myopathy, proximal
RS2142290623 EPB42 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
RS2142290923 USB1 Health Risk Likely pathogenic —
RS2142293525 MYH2 Health Risk Likely pathogenic Myopathy, proximal
RS2142293598 MYH2 Health Risk Pathogenic Myopathy, proximal
RS2142294288 LIG3 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 20 (mngie type), Mitochondrial DNA depletion syndrome 20 (mngie type)
RS2142297044 MYH2 Health Risk Pathogenic Myopathy, proximal
RS2142297368 ZNF469 Health Risk Pathogenic —
RS2142297728 EPB42 Health Risk Likely pathogenic —
RS2142298541 PALB2 Health Risk Pathogenic Pancreatic cancer, susceptibility to
RS2142298948 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2142299058 PALB2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2142299813 MYO15A Health Risk Pathogenic Ear malformation, Ear malformation
RS2142299866 MYH2 Health Risk Pathogenic Myopathy, proximal
RS2142300225 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
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