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
RS2039242108 BCKDHA Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS2039242789 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2039243107 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS2039246253 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS2039246325 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS2039246615 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2039247540 BCKDHA Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS2039248188 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS2039250790 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS2039254077 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039260502 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039260545 FANCA Health Risk Likely pathogenic Fanconi anemia, Abnormality of blood and blood-forming tissues
RS2039260856 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039261208 GAA Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type II
RS2039261436 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2039261844 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039262153 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS2039263207 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS2039265074 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS2039266434 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039267300 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039275157 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2039275264 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS2039275333 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039276663 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039278551 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS2039278966 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039280842 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS2039284438 BCKDHA Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease
RS2039285328 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2039287628 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2039287852 GAA Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type II
RS2039289668 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS2039289942 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS2039290343 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039292050 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2039292320 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2039300041 HID1 Health Risk Pathogenic Developmental and epileptic encephalopathy 105 with hypopituitarism, Developmental and epileptic encephalopathy 105 with hypopituitarism
RS2039304656 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2039307447 ZFYVE26 Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS2039309312 CIITA Health Risk Likely pathogenic MHC class II deficiency, MHC class II deficiency
RS2039321844 CEP290 Health Risk Pathogenic Joubert syndrome, Nephronophthisis
RS2039327767 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS2039330078 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS2039330307 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039331837 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039333225 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2039334639 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039335473 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS2039335667 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2039336515 SLC7A7 Health Risk Pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2039339156 POLD1 Health Risk Conflicting classifications of pathogenicity Mandibular hypoplasia-deafness-progeroid syndrome, Mandibular hypoplasia-deafness-progeroid syndrome
RS2039339219 SLC7A7 Health Risk Pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2039344714 SLC7A7 Health Risk Pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2039349935 SLC7A7 Health Risk Pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2039364779 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2039364798 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2039371081 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS2039372961 BCKDHA Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS2039375116 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2039375435 BCKDHA Health Risk Pathogenic —
RS2039381583 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2039382789 BCKDHA Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease type 1A
RS2039383036 BCKDHA Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS2039383167 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS2039386741 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS2039389205 GAA Health Risk Pathogenic —
RS2039389302 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2039389744 GAA Health Risk Pathogenic —
RS2039397653 MEGF8 Health Risk Likely pathogenic MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome
RS2039403673 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS2039405116 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS2039407382 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2039415511 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS2039418269 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS2039434309 MTM1 Health Risk Likely pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS2039444431 ATP8A2 Health Risk Pathogenic —
RS2039462341 ZFYVE26 Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS2039462773 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS2039463765 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2039485066 ATL1 Health Risk Likely pathogenic Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
RS2039494684 HID1 Health Risk Pathogenic Developmental and epileptic encephalopathy 105 with hypopituitarism, Developmental and epileptic encephalopathy 105 with hypopituitarism
RS2039524843 CACNA1G Health Risk Likely pathogenic Spinocerebellar ataxia type 42, Spinocerebellar ataxia type 42
RS2039539459 ATL1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Hereditary spastic paraplegia 3A
RS2039539616 SETD2 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Inborn genetic diseases
RS2039539644 ATL1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Hereditary spastic paraplegia 3A
RS2039543082 ATL1 Health Risk Pathogenic Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
RS2039543383 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2039544464 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS2039593666 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2039600745 GCH1 Health Risk Conflicting classifications of pathogenicity Dystonia 5, GTP cyclohydrolase I deficiency
RS2039603867 FANCA Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS2039604081 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2039605345 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039605605 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS2039612615 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS2039613696 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Hereditary spastic paraplegia 15
RS2039614529 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS2039616151 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2039616380 USH2A Health Risk Pathogenic Usher syndrome type 2, Usher syndrome type 2
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