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
RS1436175370 COL4A1 Health Risk Pathogenic/Likely pathogenic Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Microangiopathy and leukoencephalopathy
RS1436181133 LAMP2 Health Risk Pathogenic Danon disease, Danon disease
RS143618179 LIG4 Health Risk Conflicting classifications of pathogenicity DNA ligase IV deficiency, DNA ligase IV deficiency
RS143618355 NR4A2 Health Risk Conflicting classifications of pathogenicity NR4A2-related disorder, NR4A2-related disorder
RS1436187022 TNNC1 Health Risk Pathogenic Dilated cardiomyopathy 1Z, Dilated cardiomyopathy 1Z
RS1436190761 SMARCAL1 Health Risk Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS143619694 TNFAIP3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1436211151 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS143621153 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Acquired hemoglobin H disease
RS143621221 TRIM37 Health Risk Conflicting classifications of pathogenicity Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS1436214826 MLC1 Health Risk Pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS143621769 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS143622603 CYP26B1 Health Risk Conflicting classifications of pathogenicity CYP26B1-related disorder, CYP26B1-related disorder
RS1436232875 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS143623535 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS143624283 AP4E1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS143624519 MAPT Health Risk Conflicting classifications of pathogenicity MAPT-Related Spectrum Disorders, Frontotemporal dementia
RS143624531 PKD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143625481 LRBA Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS143625567 TLR3 Health Risk Conflicting classifications of pathogenicity Herpes simplex encephalitis, susceptibility to
RS1436261457 MYBPC3 Health Risk Likely pathogenic —
RS143626223 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial colorectal cancer
RS143626559 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS143626910 P2RX2 Health Risk Conflicting classifications of pathogenicity Bilateral sensorineural hearing impairment, Bilateral sensorineural hearing impairment
RS1436269510 SPATA7 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 3, Leber congenital amaurosis 3
RS1436270991 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS143627754 GATA3 Health Risk Conflicting classifications of pathogenicity Hypoparathyroidism, deafness
RS143628723 CCDC50 Health Risk Conflicting classifications of pathogenicity —
RS143629026 HMCN1 Health Risk Conflicting classifications of pathogenicity HMCN1-related disorder, HMCN1-related disorder
RS143630062 CAMTA1 Health Risk Conflicting classifications of pathogenicity CAMTA1-related disorder, Epilepsy
RS143630318 CD3E Health Risk Conflicting classifications of pathogenicity Immunodeficiency 18, Immunodeficiency 18
RS143631183 POLG Health Risk Conflicting classifications of pathogenicity POLG-related disorder, Progressive sclerosing poliodystrophy
RS143631233 EVC Health Risk Conflicting classifications of pathogenicity Curry-Hall syndrome, Ellis-van Creveld syndrome
RS143631346 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS1436324961 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS143632883 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Febrile seizures
RS143633976 ASH1L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ASH1L-related disorder
RS1436342215 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS1436353084 LOX Health Risk Likely pathogenic Generalized arterial tortuosity, Cutis laxa
RS1436357692 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS143635917 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS143635963 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS143636968 SHQ1 Health Risk Conflicting classifications of pathogenicity Dystonia 35, childhood-onset
RS143637930 SALL1 Health Risk Conflicting classifications of pathogenicity Townes syndrome, Townes syndrome
RS143638171 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS143638361 LAMA2 Health Risk Conflicting classifications of pathogenicity Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS143638809 NRIP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, NRIP1-related disorder
RS1436390158 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS143639400 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS1436395839 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Deafness
RS143640165 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Familial cold autoinflammatory syndrome 2
RS1436409342 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1436409379 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS143641080 NINL Health Risk Conflicting classifications of pathogenicity —
RS143641133 DOLK Health Risk Conflicting classifications of pathogenicity DK1-congenital disorder of glycosylation, Cardiovascular phenotype
RS143641292 UMOD Health Risk Conflicting classifications of pathogenicity Familial juvenile hyperuricemic nephropathy type 1, Inborn genetic diseases
RS143642048 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS1436421650 SDHB Health Risk Conflicting classifications of pathogenicity Pheochromocytoma, Gastrointestinal stromal tumor
RS143642304 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS143642515 LMBRD1 Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF
RS143642542 SPTA1 Health Risk Conflicting classifications of pathogenicity Elliptocytosis 2, Pyropoikilocytosis
RS1436425494 CNGA1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, CNGA1-related disorder
RS1436436059 KARS1 Health Risk Likely pathogenic —
RS143643688 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS143644029 KRIT1 Health Risk Conflicting classifications of pathogenicity Cerebral cavernous malformation, Inborn genetic diseases
RS1436441738 CTNS Health Risk Pathogenic/Likely pathogenic Ocular cystinosis, Juvenile nephropathic cystinosis
RS143644290 NEBL Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS143644781 PIBF1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 33, Joubert syndrome 33
RS143644938 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS143645714 ESPN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143646847 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS1436470033 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS143647342 KDM5B Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS143647372 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS143647583 GALNT3 Health Risk Conflicting classifications of pathogenicity Tumoral calcinosis, hyperphosphatemic
RS143648545 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS143648758 F11 Health Risk Pathogenic Hereditary factor XI deficiency disease, Abnormal bleeding
RS143649022 NPHS1 Health Risk Pathogenic/Likely pathogenic Nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1436505855 CARD9 Health Risk Conflicting classifications of pathogenicity Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS1436511287 IFT172 Health Risk Likely pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS1436514087 ETFDH Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS143651470 COL11A1 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 1, Stickler syndrome type 2
RS1436515577 CHD7 Health Risk Pathogenic/Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS143652476 PODXL Health Risk Conflicting classifications of pathogenicity PODXL-related disorder, Inborn genetic diseases
RS143652660 CREB3L3 Health Risk Pathogenic —
RS143654141 BMP2 Health Risk Conflicting classifications of pathogenicity —
RS143654307 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS1436547254 RASA1 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation syndrome, Cardiovascular phenotype
RS143655263 CYP11A1 Health Risk Conflicting classifications of pathogenicity Congenital adrenal insufficiency with 46, XY sex reversal OR 46
RS1436552875 TGFB2 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 4, Familial thoracic aortic aneurysm and aortic dissection
RS143657539 PPT1 Health Risk Likely pathogenic Inborn genetic diseases, Neuronal ceroid lipofuscinosis
RS143659874 CEP164 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 15, CEP164-related disorder
RS143660757 IFT80 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2
RS143660836 POLG2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Hereditary spastic paraplegia
RS143660871 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS143660941 PUS1 Health Risk Conflicting classifications of pathogenicity Myopathy, lactic acidosis
RS143660961 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Lissencephaly 9 with complex brainstem malformation
RS143661911 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS143662421 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Spermatogenic failure 28
RS143662903 TMC6 Health Risk Conflicting classifications of pathogenicity Epidermodysplasia verruciformis, Inborn genetic diseases
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