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
RS1559401356 THRB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1559401406 GLB1 Health Risk Likely pathogenic GM1 gangliosidosis, Mucopolysaccharidosis
RS1559401428 GLB1 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-B
RS1559402680 COL4A4 Health Risk Conflicting classifications of pathogenicity —
RS1559403654 FANCD2 Health Risk Pathogenic Fanconi anemia complementation group D2, Fanconi anemia
RS1559404382 D2HGDH Health Risk Pathogenic D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1
RS1559406508 UGT1A1 Health Risk Pathogenic; other Gilbert syndrome, UGT1A1-related disorder
RS1559406956 COL4A4 Health Risk Likely pathogenic —
RS1559408259 GLB1 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-B
RS1559409373 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1559409580 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1559409637 TTN Health Risk Likely pathogenic —
RS1559410146 BARD1 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1559410251 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1559412676 WNT10A Health Risk Likely pathogenic Tooth agenesis, selective
RS1559413463 SETD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Intellectual disability
RS1559414131 SCN10A Health Risk Likely pathogenic Brugada syndrome, Brugada syndrome
RS1559414146 TTN Health Risk Likely pathogenic —
RS1559414567 UGT1A1 Health Risk Pathogenic —
RS1559414655 POMGNT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (limb-girdle), type C
RS1559414817 UGT1A1 Health Risk Likely pathogenic UGT1A1-related disorder, UGT1A1-related disorder
RS1559414928 WNT10A Health Risk Pathogenic Odonto-onycho-dermal dysplasia, Tooth agenesis
RS1559415403 UGT1A1 Health Risk Likely pathogenic Gilbert syndrome, BILIRUBIN
RS1559415493 THRB Health Risk Conflicting classifications of pathogenicity —
RS1559415567 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1559415720 THRB Health Risk Likely pathogenic resistance to thyroid hormone (RTH), resistance to thyroid hormone (RTH)
RS1559415816 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1559416138 WNT10A Health Risk Pathogenic Tooth agenesis, selective
RS1559423185 BARD1 Health Risk Likely pathogenic Ovarian neoplasm, Ovarian neoplasm
RS1559423385 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS1559423694 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1559423780 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1559424056 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1559424172 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1559424302 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1559424358 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1559424451 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1559424634 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1559425010 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1559425098 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1559425580 CAPN10 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1559425604 BARD1 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1559425909 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1559425911 VHL Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1559425925 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome
RS1559425951 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome
RS1559426047 VHL Health Risk Likely pathogenic —
RS1559426072 VHL Health Risk Pathogenic/Likely pathogenic Chuvash polycythemia, Von Hippel-Lindau syndrome
RS1559426089 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS1559426095 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome
RS1559426115 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Chuvash polycythemia
RS1559426145 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS1559426199 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Chuvash polycythemia
RS1559426203 VHL Health Risk Pathogenic Chuvash polycythemia, Von Hippel-Lindau syndrome
RS1559426297 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1559426428 BARD1 Health Risk Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1559427364 SETD5 Health Risk Pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, SETD5-related disorder
RS1559428033 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia
RS1559428039 VHL Health Risk Likely pathogenic Chuvash polycythemia, Von Hippel-Lindau syndrome
RS1559428051 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome
RS1559428056 VHL Health Risk Likely pathogenic Von Hippel-Lindau syndrome, Chuvash polycythemia
RS1559428077 VHL Health Risk Likely pathogenic Von Hippel-Lindau syndrome, Chuvash polycythemia
RS1559428091 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia
RS1559428103 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS1559428107 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome
RS1559428119 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia
RS1559428128 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome
RS1559428134 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Chuvash polycythemia
RS1559428142 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS1559428164 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome
RS1559428180 VHL Health Risk Likely pathogenic Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome
RS1559428217 VHL Health Risk Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome
RS1559428232 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome
RS1559428267 VHL Health Risk Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome
RS1559428905 TRIP12 Health Risk Pathogenic Clark-Baraitser syndrome, Clark-Baraitser syndrome
RS1559429489 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1559429613 VHL Health Risk Pathogenic Chuvash polycythemia, Von Hippel-Lindau syndrome
RS1559429663 COL4A4 Health Risk Likely pathogenic —
RS1559429711 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome
RS1559429717 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome
RS1559429736 VHL Health Risk Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS1559429778 VHL Health Risk Likely pathogenic Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome
RS1559429824 VHL Health Risk Likely pathogenic Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome
RS1559429829 VHL Health Risk Likely pathogenic Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome
RS1559430011 VHL Health Risk Likely pathogenic Von Hippel-Lindau syndrome, Chuvash polycythemia
RS1559432828 COL7A1 Health Risk Pathogenic —
RS1559433601 TTN Health Risk Likely pathogenic —
RS1559434366 RAF1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1559435706 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS1559435824 SAG Health Risk Pathogenic —
RS1559436782 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1559437094 BARD1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1559437198 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1559437226 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1559437264 BARD1 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1559437285 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1559437347 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1559438651 COL4A4 Health Risk Pathogenic/Likely pathogenic Benign familial hematuria, Benign familial hematuria
RS1559439258 SETD5 Health Risk Pathogenic —
RS1559441291 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
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