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
RS1727731607 DOK7 Health Risk Likely pathogenic Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS1727745724 DSPP Health Risk Likely pathogenic Dentinogenesis imperfecta type 2, Dentinogenesis imperfecta type 2
RS1727756750 DSPP Health Risk Conflicting classifications of pathogenicity Deafness, autosomal dominant 39
RS1727782355 PKD2 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease
RS1727786451 PKD2 Health Risk Likely pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1727790591 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Renal cyst
RS1727810406 MMAA Health Risk Pathogenic Methylmalonic aciduria, cblA type
RS1727814966 MMAA Health Risk Likely pathogenic Methylmalonic aciduria, cblA type
RS1727827349 WDR19 Health Risk Likely pathogenic Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS1727874138 WDR19 Health Risk Pathogenic Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS1727922828 MMAA Health Risk Pathogenic Methylmalonic aciduria, cblA type
RS1727923462 MMAA Health Risk Pathogenic Methylmalonic aciduria, cblA type
RS1727938145 ADH5 Health Risk Pathogenic AMED syndrome, digenic
RS1728076151 MMAA Health Risk Pathogenic Methylmalonic aciduria, cblA type
RS1728076436 MMAA Health Risk Likely pathogenic Methylmalonic acidemia, Methylmalonic aciduria
RS1728156204 RMND1 Health Risk Pathogenic —
RS1728162402 MMAA Health Risk Likely pathogenic Methylmalonic aciduria, cblA type
RS1728203978 MMAA Health Risk Pathogenic Methylmalonic aciduria, cblA type
RS1728415390 SEPSECS Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 2D, Pontocerebellar hypoplasia type 2D
RS1728474004 GABRB1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 45
RS1728584859 GABRB1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 45
RS1728590350 AFG2A Health Risk Pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS1728633687 DOK7 Health Risk Likely pathogenic Congenital myasthenic syndrome 10, Congenital myasthenic syndrome 10
RS1728635624 NFKB1 Health Risk Likely pathogenic Immunodeficiency, common variable
RS1728646811 DOK7 Health Risk Pathogenic/Likely pathogenic Fetal akinesia deformation sequence 3, Fetal akinesia deformation sequence 1
RS1728650830 DOK7 Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS1728671600 DOK7 Health Risk Pathogenic Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS1728692644 TET2 Health Risk Pathogenic EBV-positive nodal T- and NK-cell lymphoma, EBV-positive nodal T- and NK-cell lymphoma
RS1728693166 TET2 Health Risk Pathogenic —
RS1728704616 TET2 Health Risk Pathogenic —
RS1728711651 TET2 Health Risk Pathogenic EBV-positive nodal T- and NK-cell lymphoma, EBV-positive nodal T- and NK-cell lymphoma
RS1728761079 OPA1 Health Risk Pathogenic —
RS1728769445 PIGG Health Risk Pathogenic Intellectual disability, autosomal recessive 53
RS1728771454 OPA1 Health Risk Likely pathogenic Autosomal dominant optic atrophy classic form, Autosomal dominant optic atrophy classic form
RS1728783958 TET2 Health Risk Pathogenic —
RS1728784661 PIGG Health Risk Pathogenic Intellectual disability, autosomal recessive 53
RS1728822488 CEP135 Health Risk Pathogenic —
RS1728848951 PITX2 Health Risk Pathogenic —
RS1728870745 AFG2A Health Risk Likely pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS1728873590 PITX2 Health Risk Pathogenic Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1
RS1728875550 PITX2 Health Risk Pathogenic Anterior segment dysgenesis, Anterior segment dysgenesis
RS1728876351 WDR19 Health Risk Likely pathogenic Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5
RS1728905695 OPA1 Health Risk Pathogenic Autosomal dominant optic atrophy classic form, Autosomal dominant optic atrophy classic form
RS1728940158 AFG2A Health Risk Pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS17289589 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, See cases
RS1728991935 TET2 Health Risk Pathogenic —
RS1728998905 PITX2 Health Risk Pathogenic Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1
RS1729000976 PITX2 Health Risk Pathogenic Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1
RS1729001104 PITX2 Health Risk Pathogenic Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1
RS1729003669 PITX2 Health Risk Likely pathogenic Anterior segment dysgenesis 4, Anterior segment dysgenesis 4
RS1729007624 PITX2 Health Risk Pathogenic Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1
RS1729018168 CEP135 Health Risk Pathogenic —
RS1729147441 AFG2A Health Risk Pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS1729197529 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1729200967 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1729264976 WDR19 Health Risk Likely pathogenic Nephronophthisis 13, Asphyxiating thoracic dystrophy 5
RS1729381211 TET2 Health Risk Pathogenic EBV-positive nodal T- and NK-cell lymphoma, EBV-positive nodal T- and NK-cell lymphoma
RS1729492561 FBXW7 Health Risk Conflicting classifications of pathogenicity Cervical cancer, Colorectal cancer
RS1729554501 MANBA Health Risk Pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS1729654379 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1729663828 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1729681346 EVC Health Risk Likely pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS1729718087 ANTXR2 Health Risk Pathogenic —
RS1729749153 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders
RS1729842757 LRBA Health Risk Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS1729889650 INTU Health Risk Likely pathogenic Short-rib thoracic dysplasia 20 with polydactyly, Orofaciodigital syndrome 17
RS1729986593 MLC1 Health Risk Likely pathogenic —
RS1730078066 SEC24D Health Risk Pathogenic —
RS1730087475 AFG2A Health Risk Pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS1730088305 AFG2A Health Risk Pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS1730093487 WDR19 Health Risk Likely pathogenic Nephronophthisis 13, Nephronophthisis 13
RS1730099972 SEC24D Health Risk Likely pathogenic —
RS1730132238 FGB Health Risk Pathogenic —
RS1730293546 MANBA Health Risk Conflicting classifications of pathogenicity Beta-D-mannosidosis, Beta-D-mannosidosis
RS1730296951 MANBA Health Risk Pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS1730329392 TET2 Health Risk Pathogenic EBV-positive nodal T- and NK-cell lymphoma, EBV-positive nodal T- and NK-cell lymphoma
RS1730394064 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders
RS1730403199 PROM1 Health Risk Pathogenic Stargardt disease 4, Stargardt disease 4
RS17304212 PJVK Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 59, Autosomal recessive nonsyndromic hearing loss 59
RS1730456165 WFS1 Health Risk Pathogenic/Likely pathogenic Cataract 41, Autosomal dominant nonsyndromic hearing loss 6
RS1730514795 WDR19 Health Risk Likely pathogenic Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5
RS1730515128 WDR19 Health Risk Likely pathogenic Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS1730535406 WDR19 Health Risk Pathogenic Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5
RS1730552437 LRBA Health Risk Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS1730600472 WFS1 Health Risk Pathogenic Wolfram syndrome 1, Wolfram syndrome 1
RS1730623318 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1730640591 MANBA Health Risk Pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS1730695660 PROM1 Health Risk Pathogenic —
RS1730760070 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1730766213 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS1730784665 AFG2A Health Risk Pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS1730786293 AFG2A Health Risk Likely pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS1730806684 FAT4 Health Risk Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2
RS1730824213 CEP135 Health Risk Pathogenic Microcephaly 8, primary
RS1730863609 WFS1 Health Risk Pathogenic Wolfram syndrome 1, Wolfram syndrome 1
RS1730884546 WFS1 Health Risk Pathogenic Diabetes mellitus, Wolfram syndrome 1
RS1730892028 WFS1 Health Risk Pathogenic —
RS1730907876 WFS1 Health Risk Pathogenic —
RS1730924133 WFS1 Health Risk Uncertain significance/Uncertain risk allele Wolfram syndrome 1, WFS1-related disorder
RS1730930342 WFS1 Health Risk Pathogenic Wolfram syndrome 1, Cataract 41
« Prev 1 ... 1205 1206 1207 1208 1209 1210 1211 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →