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
RS2503174606 SPTB Health Risk Pathogenic/Likely pathogenic —
RS2503175759 SPTB Health Risk Likely pathogenic —
RS2503179006 MLH3 Health Risk Conflicting classifications of pathogenicity Ovarian cancer, Ovarian cancer
RS2503180084 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2503180145 SPTB Health Risk Likely pathogenic —
RS2503180293 SPTB Health Risk Pathogenic/Likely pathogenic —
RS2503180387 SPTB Health Risk Pathogenic —
RS2503180411 SPTB Health Risk Pathogenic SPTB-related disorder, SPTB-related disorder
RS2503180903 SPTB Health Risk Likely pathogenic —
RS2503181299 SPTB Health Risk Pathogenic —
RS2503181309 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2503181366 SPTB Health Risk Likely pathogenic —
RS2503183916 FANCM Health Risk Pathogenic —
RS2503185723 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2503185754 POMT2 Health Risk Likely pathogenic —
RS2503187799 SPTB Health Risk Likely pathogenic —
RS2503188605 SPTB Health Risk Pathogenic/Likely pathogenic —
RS2503188648 FANCM Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia
RS2503193129 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2503193443 POMT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS2503194551 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS2503194575 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS2503195017 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2503195040 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS2503196861 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2503196938 CHAMP1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 40
RS2503197133 POMT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS2503197148 POMT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS2503197798 SPTB Health Risk Pathogenic —
RS2503198124 SPTB Health Risk Pathogenic —
RS2503198171 SPTB Health Risk Pathogenic —
RS2503198180 CHAMP1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 40
RS2503198272 SPTB Health Risk Pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS2503198347 SPTB Health Risk Likely pathogenic —
RS2503198577 SPTB Health Risk Likely pathogenic —
RS2503198675 SPTB Health Risk Likely pathogenic SPTB-related disorder, SPTB-related disorder
RS2503199240 SPTB Health Risk Likely pathogenic —
RS2503201849 CHAMP1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 40
RS2503203091 POMT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS2503203454 CHAMP1 Health Risk Pathogenic —
RS2503203617 SPTB Health Risk Pathogenic —
RS2503203792 POMT2 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS2503203938 CHAMP1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 40
RS2503203991 CHAMP1 Health Risk Pathogenic See cases, See cases
RS2503204104 SPTB Health Risk Likely pathogenic —
RS2503204284 SPTB Health Risk Likely pathogenic —
RS2503204380 CHAMP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 40
RS2503204393 CHAMP1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 40
RS2503204562 CHAMP1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 40
RS2503204756 CHAMP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 40
RS2503205188 IFT43 Health Risk Pathogenic —
RS2503207877 SPTB Health Risk Pathogenic —
RS2503210409 SPTB Health Risk Likely pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS2503211315 MLH3 Health Risk Likely pathogenic —
RS2503213341 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2503213372 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2503213449 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2503213538 SPTB Health Risk Likely pathogenic —
RS2503213570 SPTB Health Risk Likely pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS2503216999 VIPAS39 Health Risk Pathogenic —
RS2503219644 SPTB Health Risk Likely pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS2503219666 SPTB Health Risk Pathogenic/Likely pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS2503219921 SPTB Health Risk Likely pathogenic —
RS2503219999 SPTB Health Risk Pathogenic —
RS2503220370 SPTB Health Risk Likely pathogenic —
RS2503220523 SPTB Health Risk Pathogenic/Likely pathogenic —
RS2503222098 FANCM Health Risk Likely pathogenic —
RS2503222671 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS2503226690 POMT2 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS2503226705 SPTB Health Risk Likely pathogenic —
RS2503226970 SPTB Health Risk Pathogenic —
RS2503227003 POMT2 Health Risk Pathogenic —
RS2503227032 POMT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS2503227296 POMT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS2503227366 SPTB Health Risk Pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS2503227404 SPTB Health Risk Likely pathogenic —
RS2503227561 SPTB Health Risk Pathogenic —
RS2503238068 FANCM Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2503244893 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2503246700 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2503247331 FANCM Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2503248407 SMOC1 Health Risk Pathogenic —
RS2503260477 MLH3 Health Risk Likely pathogenic Endometrial carcinoma, Endometrial carcinoma
RS2503266718 NEMF Health Risk Likely pathogenic NEMF-related disorder, NEMF-related disorder
RS2503266791 NEMF Health Risk Pathogenic —
RS2503267774 POMT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS2503268787 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS2503270978 NEMF Health Risk Pathogenic Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, Intellectual developmental disorder with speech delay and axonal peripheral neuropathy
RS2503271370 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2503271575 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2503276780 POMT2 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy
RS2503278063 SOX5 Health Risk Likely pathogenic Lamb-Shaffer syndrome, Lamb-Shaffer syndrome
RS2503278888 TTLL5 Health Risk Pathogenic —
RS2503279758 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2503280177 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2503280308 SMOC1 Health Risk Pathogenic —
RS2503280642 SOX5 Health Risk Pathogenic —
RS2503280908 FANCM Health Risk Likely pathogenic —
RS2503285522 POMT2 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS2503285557 POMT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
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