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
RS2470007725 SUMF1 Health Risk Likely pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS2470007807 NDUFS1 Health Risk Pathogenic —
RS2470007923 FN1 Health Risk Likely pathogenic Spondylometaphyseal dysplasia - Sutcliffe type, Spondylometaphyseal dysplasia - Sutcliffe type
RS2470007988 FN1 Health Risk Likely pathogenic Spondylometaphyseal dysplasia - Sutcliffe type, Spondylometaphyseal dysplasia - Sutcliffe type
RS2470012385 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2470013243 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2470014527 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2470014699 FANCD2 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2470014730 FANCD2 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2470014781 FANCD2 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2470014831 FANCD2 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2470015718 FANCD2 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2470019177 SLC4A10 Health Risk Pathogenic Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities
RS2470028767 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS2470029448 MBD5 Health Risk Pathogenic Intellectual disability, autosomal dominant 1
RS2470030083 MBD5 Health Risk Pathogenic Intellectual disability, autosomal dominant 1
RS2470030380 MBD5 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2470031181 MBD5 Health Risk Pathogenic Intellectual disability, autosomal dominant 1
RS2470031191 MBD5 Health Risk Pathogenic Intellectual disability, autosomal dominant 1
RS2470031684 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2470031704 MBD5 Health Risk Pathogenic Intellectual disability, autosomal dominant 1
RS2470033919 TTN Health Risk Likely pathogenic Primary familial dilated cardiomyopathy, Primary familial dilated cardiomyopathy
RS2470034195 FANCD2 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2470034263 FANCD2 Health Risk Likely pathogenic Fanconi anemia complementation group D2, Fanconi anemia complementation group D2
RS2470034399 FANCD2 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2470034575 FANCD2 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group D2, Fanconi anemia complementation group D2
RS2470034837 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2470034920 FANCD2 Health Risk Likely pathogenic Fanconi anemia complementation group D2, Fanconi anemia complementation group D2
RS2470039418 FANCD2 Health Risk Likely pathogenic Fanconi anemia complementation group D2, Fanconi anemia complementation group D2
RS2470042905 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2470047020 FANCD2 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2470048518 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2470049210 DIS3L2 Health Risk Likely pathogenic Perlman syndrome, Perlman syndrome
RS2470049244 DIS3L2 Health Risk Likely pathogenic Perlman syndrome, Perlman syndrome
RS2470049272 DIS3L2 Health Risk Pathogenic Perlman syndrome, Perlman syndrome
RS2470049371 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS2470049545 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2470049828 FANCD2 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2470053759 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2470055476 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2470056889 FANCD2 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2470057285 FANCD2 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2470062110 CAV3 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2470062381 CAV3 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2470066559 FANCD2 Health Risk Likely pathogenic Fanconi anemia complementation group D2, Fanconi anemia complementation group D2
RS2470066855 NDUFS1 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 5
RS2470067092 NDUFS1 Health Risk Pathogenic/Likely pathogenic NDUFS1-related disorder, Inborn genetic diseases
RS2470068027 SP110 Health Risk Pathogenic Hepatic veno-occlusive disease-immunodeficiency syndrome, Hepatic veno-occlusive disease-immunodeficiency syndrome
RS2470075102 NDUFS1 Health Risk Likely pathogenic —
RS2470076242 FANCD2 Health Risk Likely pathogenic Fanconi anemia complementation group D2, Fanconi anemia complementation group D2
RS2470076248 FANCD2 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2470076599 FANCD2 Health Risk Likely pathogenic Fanconi anemia complementation group D2, Fanconi anemia complementation group D2
RS2470078213 SUMF1 Health Risk Pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS2470078244 SUMF1 Health Risk Pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS2470079450 DIS3L2 Health Risk Likely pathogenic Perlman syndrome, Perlman syndrome
RS2470079699 SUMF1 Health Risk Pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS2470079783 SUMF1 Health Risk Pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS2470081071 FANCD2 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2470081305 FANCD2 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2470081765 CASP8 Health Risk Pathogenic Autoimmune lymphoproliferative syndrome type 2B, Autoimmune lymphoproliferative syndrome type 2B
RS2470081951 SUMF1 Health Risk Pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS2470082256 SUMF1 Health Risk Pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS2470082445 SUMF1 Health Risk Pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS2470084250 CASP8 Health Risk Pathogenic Autoimmune lymphoproliferative syndrome type 2B, Autoimmune lymphoproliferative syndrome type 2B
RS2470086003 FANCD2 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2470086249 FANCD2 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group D2, Fanconi anemia
RS2470086949 NDUFS1 Health Risk Likely pathogenic —
RS2470100391 TRIP12 Health Risk Pathogenic Clark-Baraitser syndrome, Clark-Baraitser syndrome
RS2470103647 SP110 Health Risk Pathogenic Hepatic veno-occlusive disease-immunodeficiency syndrome, Hepatic veno-occlusive disease-immunodeficiency syndrome
RS2470118509 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2470121232 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2470121680 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2470121800 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2470123138 HSPD1 Health Risk Likely pathogenic HSPD1-related disorder, HSPD1-related disorder
RS2470124525 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2470129871 ERCC6 Health Risk Pathogenic/Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS2470146052 DIS3L2 Health Risk Likely pathogenic Perlman syndrome, Perlman syndrome
RS2470148244 ATP2B2 Health Risk Pathogenic —
RS2470156523 VHL Health Risk Likely pathogenic Chuvash polycythemia, Chuvash polycythemia
RS2470157878 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome
RS2470157939 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome
RS2470157947 VHL Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2470157974 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Chuvash polycythemia
RS2470157993 VHL Health Risk Pathogenic Chuvash polycythemia, Von Hippel-Lindau syndrome
RS2470158020 VHL Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome
RS2470158062 VHL Health Risk Pathogenic Chuvash polycythemia, Von Hippel-Lindau syndrome
RS2470158066 VHL Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2470158072 VHL Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome
RS2470158104 VHL Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome
RS2470158146 VHL Health Risk Likely pathogenic Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome
RS2470158247 VHL Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2470158265 VHL Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2470158319 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome
RS2470158326 VHL Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2470158546 VHL Health Risk Pathogenic Chuvash polycythemia, Von Hippel-Lindau syndrome
RS2470158667 VHL Health Risk Pathogenic Chuvash polycythemia, Von Hippel-Lindau syndrome
RS2470158744 VHL Health Risk Pathogenic Chuvash polycythemia, Von Hippel-Lindau syndrome
RS2470158749 VHL Health Risk Pathogenic Chuvash polycythemia, Von Hippel-Lindau syndrome
RS2470158799 VHL Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2470159760 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
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