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
RS1812197323 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1812199676 EXT1 Health Risk Pathogenic/Likely pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1812200035 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1812200901 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS181222936 SPEG Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear
RS181223923 TBCE Health Risk Conflicting classifications of pathogenicity Hypoparathyroidism-retardation-dysmorphism syndrome, Hypoparathyroidism-retardation-dysmorphism syndrome
RS181224126 FRAS1 Health Risk Likely pathogenic Fraser syndrome 1, Fraser syndrome 1
RS1812243683 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1812244679 NBN Health Risk Pathogenic Breast and/or ovarian cancer, Microcephaly
RS181226788 KCNQ1 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS181227407 CHD8 Health Risk Conflicting classifications of pathogenicity —
RS181228139 KLHL41 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 9, Inborn genetic diseases
RS181229506 SCN9A Health Risk Conflicting classifications of pathogenicity Primary erythromelalgia, Channelopathy-associated congenital insensitivity to pain
RS1812331711 RAD21 Health Risk Pathogenic Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4
RS1812358625 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1812376090 RAD21 Health Risk Pathogenic Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4
RS1812391312 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1812418017 RAD21 Health Risk Pathogenic —
RS181244403 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS181245759 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 2A, Multiple endocrine neoplasia
RS1812478613 RAD21 Health Risk Pathogenic Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4
RS181248369 CEP290 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 14, Meckel-Gruber syndrome
RS1812489768 RAD21 Health Risk Pathogenic —
RS1812496169 ZFHX4 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS1812503608 TMEM67 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS181250691 EPRS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS181250704 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, See cases
RS1812515682 RAD21 Health Risk Pathogenic Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4
RS1812544253 TMEM67 Health Risk Pathogenic Joubert syndrome 6, Joubert syndrome 6
RS1812547805 ABCB4 Health Risk Pathogenic ABCB4-related disorder, ABCB4-related disorder
RS181255243 ZCCHC8 Health Risk Conflicting classifications of pathogenicity ZCCHC8-related disorder, ZCCHC8-related disorder
RS1812553075 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS1812554029 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS181255687 NGF Health Risk Conflicting classifications of pathogenicity Congenital sensory neuropathy with selective loss of small myelinated fibers, Inborn genetic diseases
RS1812558193 ABCB4 Health Risk Pathogenic/Likely pathogenic Progressive familial intrahepatic cholestasis type 3, Progressive familial intrahepatic cholestasis type 3
RS1812608078 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS1812608825 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy 4
RS1812609160 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome
RS1812611533 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS181261277 PROM1 Health Risk Conflicting classifications of pathogenicity Retinal macular dystrophy type 2, Retinitis pigmentosa
RS1812613241 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1812625715 RAD21 Health Risk Pathogenic/Likely pathogenic Cornelia de Lange syndrome 4, RAD21-related disorder
RS181264654 CEP83 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 18, Nephronophthisis 18
RS181264679 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS1812681075 TMEM67 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1812685381 TMEM67 Health Risk Likely pathogenic Joubert syndrome 6, Joubert syndrome 6
RS1812700165 RAD21 Health Risk Pathogenic Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4
RS1812737120 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1812741645 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS181275139 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS181275468 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Noonan syndrome
RS1812821716 EPHB4 Health Risk Pathogenic Lymphatic malformation 7, EPHB4-related disorder
RS1812823370 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS1812823861 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS181283286 FN1 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type
RS181284440 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS1812855196 EYA1 Health Risk Pathogenic Melnick-Fraser syndrome, Branchiootic syndrome 1
RS1812861396 TRPS1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1812863711 TRPS1 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III
RS1812870694 TRPS1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS181287533 TRDN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS1812876043 TRPS1 Health Risk Likely pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal dysplasia type I
RS1812880824 TRPS1 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III
RS181292216 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Inborn genetic diseases
RS1812931789 VARS1 Health Risk Pathogenic Neurodevelopmental disorder with microcephaly, seizures
RS181294356 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS181295720 CEP152 Health Risk Conflicting classifications of pathogenicity Microcephaly 9, primary
RS181296577 PDE6C Health Risk Conflicting classifications of pathogenicity Cone dystrophy 4, Achromatopsia
RS1812966939 EPHB4 Health Risk Likely pathogenic Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2
RS1812969416 EPHB4 Health Risk Pathogenic —
RS1812971156 TRPS1 Health Risk Likely pathogenic Trichorhinophalangeal syndrome, type III
RS181298473 RIN2 Health Risk Conflicting classifications of pathogenicity RIN2 syndrome, Inborn genetic diseases
RS181299250 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1813039419 TMEM67 Health Risk Likely pathogenic Nephronophthisis 11, Nephronophthisis 11
RS181306086 PCDH15 Health Risk Conflicting classifications of pathogenicity PCDH15-related disorder, PCDH15-related disorder
RS1813089918 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1813095852 EPHB4 Health Risk Likely pathogenic —
RS1813100007 EPHB4 Health Risk Pathogenic —
RS181311020 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS181314573 ABCA12 Health Risk Conflicting classifications of pathogenicity Congenital ichthyosis of skin, Autosomal recessive congenital ichthyosis 4B
RS1813160712 VARS1 Health Risk Pathogenic —
RS181317757 PCLO Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 3, Inborn genetic diseases
RS181318594 IFT122 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS1813191696 EPHB4 Health Risk Pathogenic —
RS1813193919 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS181319879 ABCG8 Health Risk Conflicting classifications of pathogenicity ABCG8-related disorder, ABCG8-related disorder
RS181321141 RLBP1 Health Risk Conflicting classifications of pathogenicity Newfoundland cone-rod dystrophy, Retinitis pigmentosa
RS181323749 PRF1 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Autoinflammatory syndrome
RS1813260006 EPHB4 Health Risk Pathogenic —
RS181327458 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS181327678 ERCC6 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1
RS181328051 ECHS1 Health Risk Conflicting classifications of pathogenicity ECHS1-related disorder, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS1813280584 WRN Health Risk Pathogenic/Likely pathogenic Werner syndrome, Werner syndrome
RS1813283817 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1813285283 WRN Health Risk Pathogenic/Likely pathogenic Werner syndrome, Werner syndrome
RS1813296662 EPHB4 Health Risk Likely pathogenic Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2
RS1813307862 EPHB4 Health Risk Likely pathogenic —
RS1813316083 EPHB4 Health Risk Pathogenic —
RS1813316337 EPHB4 Health Risk Pathogenic —
RS1813376591 TMEM67 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
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