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
RS2131033078 LHX3 Health Risk Pathogenic —
RS2131034777 LHX3 Health Risk Likely pathogenic Non-acquired combined pituitary hormone deficiency with spine abnormalities, Non-acquired combined pituitary hormone deficiency with spine abnormalities
RS2131036410 LHX3 Health Risk Pathogenic Non-acquired combined pituitary hormone deficiency with spine abnormalities, Non-acquired combined pituitary hormone deficiency with spine abnormalities
RS2131048008 MTAP Health Risk Pathogenic Diaphyseal medullary stenosis-bone malignancy syndrome, Diaphyseal medullary stenosis-bone malignancy syndrome
RS2131048129 MTAP Health Risk Pathogenic Diaphyseal medullary stenosis-bone malignancy syndrome, Diaphyseal medullary stenosis-bone malignancy syndrome
RS2131051951 FANCG Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group G
RS2131051986 FANCG Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2131051989 FANCG Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2131053086 FANCG Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2131053141 FANCG Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2131053417 FANCG Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2131053755 FANCG Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group G
RS2131053777 FANCG Health Risk Pathogenic —
RS2131053808 FANCG Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2131053817 FANCG Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2131053943 FANCG Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group G
RS2131054083 FANCG Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2131055360 FANCG Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2131055405 FANCG Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2131055463 FANCG Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group G
RS2131055534 FANCG Health Risk Likely pathogenic Fanconi anemia complementation group G, Fanconi anemia complementation group G
RS2131055853 FANCG Health Risk Pathogenic/Likely pathogenic FANCG-related disorder, Fanconi anemia
RS2131055994 FANCG Health Risk Likely pathogenic Fanconi anemia complementation group G, Fanconi anemia complementation group G
RS2131056131 FANCG Health Risk Likely pathogenic Carcinoma of pancreas, Carcinoma of pancreas
RS2131056296 TAF2 Health Risk Likely pathogenic —
RS2131056491 FANCG Health Risk Likely pathogenic Fanconi anemia complementation group G, Fanconi anemia complementation group G
RS2131056549 FANCG Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group G
RS2131056614 FANCG Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2131056701 FANCG Health Risk Likely pathogenic Fanconi anemia, Abnormality of blood and blood-forming tissues
RS2131057155 FANCG Health Risk Likely pathogenic Fanconi anemia complementation group G, Fanconi anemia complementation group G
RS2131057213 FANCG Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2131058481 FANCG Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2131058553 FANCG Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2131058595 FANCG Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group G
RS2131059176 FANCG Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2131059848 FANCG Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group G
RS2131060266 FANCG Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2131061695 SPTAN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS2131063622 TAF2 Health Risk Pathogenic/Likely pathogenic Microcephaly-thin corpus callosum-intellectual disability syndrome, Microcephaly-thin corpus callosum-intellectual disability syndrome
RS2131073372 PIGO Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS2131074060 PIGO Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS2131074579 PIGO Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS2131075608 PIGO Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS2131076903 MED27 Health Risk Pathogenic Neurodevelopmental disorder with spasticity, cataracts
RS2131077198 PIGO Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS2131081539 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex 5C, with pyloric atresia
RS2131083888 PIGO Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS2131087593 KRIT1 Health Risk Likely pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131087886 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131088062 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131088567 SPTAN1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2131088953 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131089190 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131089744 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131094090 CDKN2A Health Risk Pathogenic/Likely pathogenic Familial melanoma, Familial melanoma
RS2131094356 CDKN2A Health Risk Pathogenic/Likely pathogenic Melanoma-pancreatic cancer syndrome, Familial melanoma
RS2131094486 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS2131095688 CDKN2A Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Melanoma-pancreatic cancer syndrome
RS2131095862 CDKN2A Health Risk Pathogenic Familial melanoma, Familial melanoma
RS2131096063 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS2131096164 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS2131096613 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS2131096682 CDKN2A Health Risk Likely pathogenic Familial melanoma, Familial melanoma
RS2131096806 CDKN2A Health Risk Likely pathogenic —
RS2131101239 ADAMTSL2 Health Risk Likely pathogenic —
RS2131107 DAG1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
RS2131108640 DCLRE1C Health Risk Likely pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS2131111833 CDKN2A Health Risk Likely pathogenic Melanoma-pancreatic cancer syndrome, Familial melanoma
RS2131112280 CDKN2A Health Risk Pathogenic Familial melanoma, Melanoma-pancreatic cancer syndrome
RS2131113797 CDKN2A Health Risk Pathogenic Familial melanoma, Familial melanoma
RS2131113914 CDKN2A Health Risk Pathogenic Familial melanoma, Familial melanoma
RS2131114005 CDKN2A Health Risk Pathogenic Melanoma-pancreatic cancer syndrome, Melanoma-pancreatic cancer syndrome
RS2131115543 SETX Health Risk Pathogenic Spinocerebellar ataxia, autosomal recessive
RS2131116061 RFX3 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2131116547 ASPH Health Risk Likely pathogenic Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome, Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
RS2131116634 TRAPPC9 Health Risk Pathogenic —
RS2131117340 TRAPPC9 Health Risk Likely pathogenic Abnormality of the nervous system, Abnormality of the nervous system
RS2131119729 TEK Health Risk Likely pathogenic Glaucoma 3, primary congenital
RS2131122992 VPS13A Health Risk Pathogenic —
RS2131123226 VPS13A Health Risk Pathogenic —
RS2131123295 VPS13A Health Risk Likely pathogenic —
RS2131125631 VPS13A Health Risk Pathogenic —
RS2131127437 DOLK Health Risk Likely pathogenic —
RS2131131580 MAN1B1 Health Risk Likely pathogenic See cases, See cases
RS2131137637 SETX Health Risk Likely pathogenic —
RS2131140222 VPS13A Health Risk Likely pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS2131141182 TEK Health Risk Likely pathogenic Glaucoma 3, primary congenital
RS2131147945 CDKN2A Health Risk Likely pathogenic Familial melanoma, Hereditary cancer-predisposing syndrome
RS2131147969 CDKN2A Health Risk Pathogenic/Likely pathogenic Familial melanoma, Hereditary cancer-predisposing syndrome
RS2131148082 CDKN2A Health Risk Likely pathogenic Familial melanoma, Familial melanoma
RS2131148265 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Melanoma and neural system tumor syndrome
RS2131148302 CDKN2A Health Risk Pathogenic Familial melanoma, Familial melanoma
RS2131148531 CDKN2A Health Risk Likely pathogenic Familial melanoma, Familial melanoma
RS2131148812 CDKN2A Health Risk Likely pathogenic Familial melanoma, Familial melanoma
RS2131150312 DNM1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A
RS2131151265 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS2131152462 VPS13A Health Risk Likely pathogenic —
RS2131152526 ELN Health Risk Likely pathogenic —
RS2131153571 VPS13A Health Risk Pathogenic —
RS2131153683 VPS13A Health Risk Pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
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