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
RS1486643983 MTTP Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS148664724 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS1486650258 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS148665132 DGAT1 Health Risk Pathogenic Congenital diarrhea 7 with exudative enteropathy, Inborn genetic diseases
RS148665451 TGFBR2 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 1, Familial thoracic aortic aneurysm and aortic dissection
RS148665727 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1486657575 COL7A1 Health Risk Pathogenic —
RS1486662314 WDR35 Health Risk Likely pathogenic Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2
RS1486663077 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS148666497 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS148666575 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148667033 SLC25A3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy-hypotonia-lactic acidosis syndrome, Cardiomyopathy-hypotonia-lactic acidosis syndrome
RS148667065 MTO1 Health Risk Pathogenic Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Inborn genetic diseases
RS148667964 NDUFAF4 Health Risk Conflicting classifications of pathogenicity —
RS148667984 WDR62 Health Risk Conflicting classifications of pathogenicity Microcephaly 2, primary
RS148668069 POFUT1 Health Risk Conflicting classifications of pathogenicity Dowling-Degos disease 2, Inborn genetic diseases
RS148669160 PNKP Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS1486692885 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular cardiomyopathy
RS1486692931 BLM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Bloom syndrome
RS148669433 SLC34A1 Health Risk Conflicting classifications of pathogenicity Hypophosphatemic nephrolithiasis/osteoporosis 1, Inborn genetic diseases
RS148669437 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases
RS1486702985 NOTCH3 Health Risk Conflicting classifications of pathogenicity Myofibromatosis, infantile
RS148670389 NPHP3 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Renal-hepatic-pancreatic dysplasia 1
RS1486706164 NPHP1 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS148670852 ASXL1 Health Risk Conflicting classifications of pathogenicity ASXL1-related disorder, Inborn genetic diseases
RS148671332 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS148672324 SPART Health Risk Conflicting classifications of pathogenicity Troyer syndrome, Inborn genetic diseases
RS148672481 FZD4 Health Risk Conflicting classifications of pathogenicity —
RS1486730461 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS1486733753 ETFDH Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS148673599 RPL5 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS1486736339 BSND Health Risk Pathogenic —
RS148674059 SEMA4A Health Risk Conflicting classifications of pathogenicity —
RS148674271 CACNB2 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 4, Cardiovascular phenotype
RS148674510 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 15, Primary ciliary dyskinesia
RS148674729 DNAAF1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 13
RS1486747361 MED17 Health Risk Pathogenic —
RS148674752 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS148675260 ITPR1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Autosomal dominant cerebellar ataxia
RS148675378 TNC Health Risk Conflicting classifications of pathogenicity TNC-related disorder, TNC-related disorder
RS1486760100 JAK3 Health Risk Likely pathogenic JAK3-related disorder, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS1486763160 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS1486764809 PKD1 Health Risk Pathogenic —
RS1486766153 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS148677674 LZTR1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 10, Hereditary cancer-predisposing syndrome
RS148677728 GHR Health Risk Conflicting classifications of pathogenicity Short stature due to partial GHR deficiency, Inborn genetic diseases
RS148679414 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-related disorder
RS148679597 CDKN1A Health Risk Conflicting classifications of pathogenicity —
RS1486805206 FLG Health Risk Pathogenic —
RS1486810062 RP1L1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS148681672 CTCF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CTCF-related disorder
RS148682268 BBS4 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 4
RS148682538 LAMA5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148683734 NOD2 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Blau syndrome
RS1486839704 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Isolated focal cortical dysplasia type II
RS148684589 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Tibial muscular dystrophy
RS148684857 PCK1 Health Risk Conflicting classifications of pathogenicity Phosphoenolpyruvate carboxykinase deficiency, cytosolic
RS148685443 FOCAD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, FOCAD-related disorder
RS148685531 INS Health Risk Conflicting classifications of pathogenicity Hyperproinsulinemia, Hyperproinsulinemia
RS148685782 FGG Health Risk Conflicting classifications of pathogenicity Congenital afibrinogenemia, Abnormal bleeding
RS148685925 UTRN Health Risk Conflicting classifications of pathogenicity —
RS148686474 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome
RS1486865637 RYR1 Health Risk Pathogenic RYR1-related disorder, Congenital multicore myopathy with external ophthalmoplegia
RS148686869 DIAPH1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 1, Autosomal dominant nonsyndromic hearing loss 1
RS1486868849 CLCN1 Health Risk Likely pathogenic Congenital myotonia, autosomal dominant form
RS148687561 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS148688181 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS1486883902 MRPS22 Health Risk Pathogenic —
RS148689126 SLC12A1 Health Risk Conflicting classifications of pathogenicity —
RS148689951 PRICKLE2 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 5, PRICKLE2-related disorder
RS1486905702 HJV Health Risk Pathogenic/Likely pathogenic Hemochromatosis type 2A, Hemochromatosis type 2A
RS148690585 RAD51D Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS148690740 OTOA Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, OTOA-related disorder
RS148691166 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS148692192 IL17RA Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS148692824 GPRASP2 Health Risk Conflicting classifications of pathogenicity GPRASP2-related disorder, GPRASP2-related disorder
RS148693111 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Intellectual disability
RS1486933065 CDKN1C Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, IMAGe syndrome
RS148693438 HIBCH Health Risk Pathogenic 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency
RS148693910 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, EP300-related disorder
RS148694290 ACAD9 Health Risk Pathogenic/Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS148694888 DOCK2 Health Risk Conflicting classifications of pathogenicity DOCK2 deficiency, DOCK2 deficiency
RS1486949098 PIGN Health Risk Pathogenic/Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS148695069 PDZD7 Health Risk Pathogenic Hearing loss, autosomal recessive 57
RS1486960809 LZTR1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS148696208 TGM6 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 35, Spinocerebellar ataxia type 35
RS148696723 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS1486970211 DNM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS148697028 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS1486980139 NEU1 Health Risk Pathogenic Sialidosis type 2, Sialidosis type 2
RS148698179 KCNT2 Health Risk Conflicting classifications of pathogenicity KCNT2-related disorder, Inborn genetic diseases
RS148698535 DZIP1L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, DZIP1L-related disorder
RS148698633 ANO5 Health Risk Conflicting classifications of pathogenicity Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS148698650 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1486992935 COL7A1 Health Risk Pathogenic —
RS1486994359 GDF2 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS1487002693 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS1487002781 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS148700291 SH2D1A Health Risk Conflicting classifications of pathogenicity X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency
RS148701303 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
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