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
RS2047796277 KIF3B Health Risk association Oligospermia, Oligospermia
RS2047796952 OFD1 Health Risk Likely pathogenic Orofaciodigital syndrome I, Orofaciodigital syndrome I
RS2047797645 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS2047798556 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS2047807048 RAD51C Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group O, Ovarian neoplasm
RS2047809263 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS2047811523 RAD51C Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2047814459 RAD51C Health Risk Pathogenic Breast-ovarian cancer, familial
RS2047819253 CFAP410;LOC130066823 Health Risk Pathogenic —
RS2047828707 KIF3B Health Risk Pathogenic Retinitis pigmentosa 89, Retinitis pigmentosa 89
RS2047830748 PHKA2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS2047834385 PHKA2 Health Risk Likely pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS2047846279 SELENON Health Risk Pathogenic Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS2047848157 SELENON Health Risk Pathogenic Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS2047850396 SELENON Health Risk Pathogenic/Likely pathogenic Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS2047850525 SELENON Health Risk Pathogenic Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS2047850664 DYNC1H1 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 13
RS2047851598 PHKA2 Health Risk Pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS2047862318 FKBP10 Health Risk Likely pathogenic Osteogenesis imperfecta type 11, Osteogenesis imperfecta type 11
RS2047883109 OFD1 Health Risk Pathogenic Joubert syndrome, Orofaciodigital syndrome I
RS2047891781 DYNC1H1 Health Risk Likely pathogenic —
RS2047893330 TANC2 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2047894013 FKBP10 Health Risk Pathogenic —
RS2047900528 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2047907532 AP3B2 Health Risk Pathogenic —
RS2047909739 OFD1 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2047910158 OFD1 Health Risk Pathogenic Orofaciodigital syndrome I, Orofaciodigital syndrome I
RS2047911570 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2047911840 ABCC6 Health Risk Pathogenic —
RS2047912002 TTN Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS2047913995 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2047914412 OFD1 Health Risk Likely pathogenic Joubert syndrome 10, Ventriculomegaly
RS2047928865 SELENON Health Risk Likely pathogenic See cases, Eichsfeld type congenital muscular dystrophy
RS2047929645 SELENON Health Risk Pathogenic Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS2047931126 SELENON Health Risk Pathogenic Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS2047931446 DYNC1H1 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS2047932647 DYNC1H1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS2047932793 DYNC1H1 Health Risk Likely pathogenic —
RS2047932848 SELENON Health Risk Pathogenic Muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS2047933165 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS2047935205 DYNC1H1 Health Risk Likely pathogenic Lissencephaly, Lissencephaly
RS2047935649 SELENON Health Risk Pathogenic —
RS2047936719 SELENON Health Risk Likely pathogenic Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS2047938879 DYNC1H1 Health Risk Likely pathogenic Lissencephaly, Lissencephaly
RS2047940629 RAD51C Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS2047940709 RAD51C Health Risk Pathogenic Fanconi anemia complementation group O, Fanconi anemia complementation group O
RS2047943468 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS2047945471 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS2047947712 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS2047950288 DYNC1H1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 13
RS2047950932 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS2047951391 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS2047953067 RAD51C Health Risk Pathogenic Breast-ovarian cancer, familial
RS2047954401 RAD51C Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS2047954937 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS2047955710 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS2047956106 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS2047956880 RAD51C Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2047958031 AP3B2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 48
RS2047958236 RAD51C Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group O, Breast and/or ovarian cancer
RS2047958982 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS2047959481 RAD51C Health Risk Likely pathogenic Familial ovarian carcinoma, Breast-ovarian cancer
RS2047961752 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2047963148 HDAC8 Health Risk Likely pathogenic —
RS2047965357 HDAC8 Health Risk Likely pathogenic Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5
RS2047976018 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2047977957 SELENON Health Risk Pathogenic/Likely pathogenic Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS2047981524 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2047998539 DYNC1H1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 13
RS2048015293 SELENON Health Risk Pathogenic/Likely pathogenic Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS2048015439 TTN Health Risk Pathogenic Dilated cardiomyopathy 1A, Dilated cardiomyopathy 1A
RS2048020646 RAD51C Health Risk Pathogenic Fanconi anemia complementation group O, Fanconi anemia complementation group O
RS2048021234 RAD51C Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS2048023499 OFD1 Health Risk Conflicting classifications of pathogenicity Orofaciodigital syndrome I, Joubert syndrome
RS2048024043 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS2048033583 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS2048038246 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures, Intellectual disability
RS2048038458 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS2048039273 DYNC1H1 Health Risk Likely pathogenic —
RS2048139263 TBCD Health Risk Pathogenic —
RS2048143498 MTRFR Health Risk Pathogenic Combined oxidative phosphorylation defect type 7, Spastic paraplegia
RS2048145654 MTRFR Health Risk Pathogenic Hereditary spastic paraplegia 55, Hereditary spastic paraplegia 55
RS2048149402 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2048154655 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2048164566 OFD1 Health Risk Likely pathogenic —
RS2048178923 TCF4 Health Risk Likely pathogenic —
RS2048183675 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Charcot-Marie-Tooth disease axonal type 2O
RS2048187051 MTRFR Health Risk Pathogenic Combined oxidative phosphorylation defect type 7, Spastic paraplegia
RS2048197122 MYT1L Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2048199652 PHKA2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS2048205050 ASXL1 Health Risk Likely pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS2048243728 LARP7 Health Risk Pathogenic Microcephalic primordial dwarfism, Alazami type
RS2048269550 RAD51C Health Risk Pathogenic Fanconi anemia complementation group O, Fanconi anemia complementation group O
RS2048270218 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS2048270572 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS2048272509 RAD51C Health Risk Pathogenic Fanconi anemia complementation group O, Fanconi anemia complementation group O
RS2048273367 RAD51C Health Risk Pathogenic Breast-ovarian cancer, familial
RS2048273755 RAD51C Health Risk Pathogenic Breast and/or ovarian cancer, Breast and/or ovarian cancer
RS2048273930 FLII Health Risk Pathogenic Cardiomyopathy, dilated
RS2048274544 RAD51C Health Risk Pathogenic Fanconi anemia complementation group O, Fanconi anemia complementation group O
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