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
RS1349262891 ADAR Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1349302999 WT1 Health Risk Likely pathogenic —
RS1349316725 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS1349317802 ADGRG6 Health Risk Pathogenic —
RS1349319235 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1349341137 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Lymphangiomyomatosis
RS1349343839 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS1349346463 ADAR Health Risk Pathogenic Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS1349347394 ZNF469 Health Risk Pathogenic —
RS1349358854 ALG6 Health Risk Pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS1349358963 CPOX Health Risk Pathogenic —
RS1349370504 SLC26A4 Health Risk Likely pathogenic Hearing loss, autosomal recessive
RS1349376862 KIF5A Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS1349377950 FLNB Health Risk Likely pathogenic —
RS1349385657 CEP152 Health Risk Pathogenic Seckel syndrome 5, Seckel syndrome 5
RS1349389319 DPM2 Health Risk Pathogenic Congenital muscular dystrophy with intellectual disability and severe epilepsy, Congenital muscular dystrophy with intellectual disability and severe epilepsy
RS1349405657 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1349405769 NCF2 Health Risk Pathogenic/Likely pathogenic Granulomatous disease, chronic
RS1349423783 COL7A1 Health Risk Conflicting classifications of pathogenicity —
RS1349426679 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Hereditary spastic paraplegia 30
RS1349426835 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1349434680 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS1349443190 NBEAL2 Health Risk Pathogenic Gray platelet syndrome, Malignant tumor of urinary bladder
RS1349476281 DOK7 Health Risk Pathogenic Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 3
RS1349477941 KIAA0753 Health Risk Pathogenic —
RS1349485235 MSX2 Health Risk Likely pathogenic —
RS1349488841 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1349494437 POMT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
RS1349506481 GRIN2B Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 27
RS1349510820 OTOA Health Risk Likely pathogenic —
RS1349512789 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1349520883 PRF1 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS1349528345 PPT1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS1349536017 KCNQ2 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1349541188 COL7A1 Health Risk Pathogenic 7 conditions, 7 conditions
RS1349581273 AXL Health Risk Conflicting classifications of pathogenicity —
RS1349597556 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Inborn genetic diseases
RS1349623728 NPHP3 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS1349637223 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1349638092 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1349638340 MTHFS Health Risk Pathogenic Neurodevelopmental disorder with microcephaly, epilepsy
RS1349644537 CUBN Health Risk Pathogenic/Likely pathogenic Imerslund-Grasbeck syndrome, Thymoma
RS1349655563 F11 Health Risk Likely pathogenic Hereditary factor XI deficiency disease, Plasma factor XI deficiency
RS1349667660 ABCG8 Health Risk Pathogenic —
RS1349668409 CDKN1B Health Risk Pathogenic/Likely pathogenic Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS1349668884 DNAAF3 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia 2, Primary ciliary dyskinesia
RS1349682845 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1349721736 COL1A1 Health Risk Conflicting classifications of pathogenicity —
RS1349732291 NPHP1 Health Risk Pathogenic/Likely pathogenic Nephronophthisis 1, Joubert syndrome with renal defect
RS1349733632 COL18A1 Health Risk Likely pathogenic —
RS1349733778 SUMF1 Health Risk Likely pathogenic Multiple sulfatase deficiency, SUMF1-related disorder
RS1349734606 PLEKHG5 Health Risk Pathogenic Neuronopathy, distal hereditary motor
RS1349755445 MCOLN1 Health Risk Pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS1349765126 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Malignant tumor of breast
RS1349800834 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1349804201 RPGRIP1L Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1349812924 ITGB2 Health Risk Pathogenic Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS1349830428 KCNH1 Health Risk Conflicting classifications of pathogenicity Temple-Baraitser syndrome, Temple-Baraitser syndrome
RS1349838988 ARSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1349849938 RDH12 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 13, Retinal dystrophy
RS1349879153 EYS Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 25
RS1349881223 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS1349881828 FANCD2 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group D2
RS1349887620 F9 Health Risk Pathogenic Thrombophilia, X-linked
RS1349925286 SGCG Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS1349928568 NBN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Microcephaly
RS1349933620 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS1349961118 CHEK2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1349969572 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS1350002806 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1350031802 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS1350038531 PATL2 Health Risk Likely pathogenic Oocyte maturation defect 4, Oocyte maturation defect 4
RS1350061017 LRBA Health Risk Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS1350074368 MAGEL2 Health Risk Likely pathogenic —
RS1350078739 COL4A5 Health Risk Conflicting classifications of pathogenicity —
RS1350116482 NRL Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1350129130 ATP8B1 Health Risk Likely pathogenic Benign recurrent intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1
RS1350129614 SMAD3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1350147987 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS1350153132 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS1350162888 BNC2 Health Risk Pathogenic Lower Urinary Tract Obstruction, Lower urinary tract obstruction
RS1350177470 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS1350192744 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1350194762 NCAPD3 Health Risk Pathogenic Microcephaly 22, primary
RS1350201776 ZNF335 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Microcephalic primordial dwarfism due to ZNF335 deficiency
RS1350203416 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS1350216610 FLNB Health Risk Conflicting classifications of pathogenicity —
RS1350217087 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 2, Long QT syndrome
RS1350217989 PANK2 Health Risk Pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS1350227206 ACSF3 Health Risk Pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS1350235037 PCDH15 Health Risk Pathogenic —
RS1350257432 DPM1 Health Risk Pathogenic Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E
RS1350258866 CHD3 Health Risk Conflicting classifications of pathogenicity Snijders Blok-Campeau syndrome, Snijders Blok-Campeau syndrome
RS1350266566 EXT2 Health Risk Likely pathogenic Exostoses, multiple
RS1350288991 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1350303547 LAMB3 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1350323144 WHRN Health Risk Pathogenic —
RS1350329646 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS1350329837 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1350342816 COL4A3 Health Risk Pathogenic/Likely pathogenic Alport syndrome 3b, autosomal recessive
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