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
RS746195427 SPTBN2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 14, Spinocerebellar ataxia type 5
RS746195722 NAGA Health Risk Likely pathogenic Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 1
RS746196338 FREM2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746196586 ABHD12 Health Risk Conflicting classifications of pathogenicity ABHD12-related disorder, ABHD12-related disorder
RS746196724 CHD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746196856 POMGNT1 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
RS746197240 RBCK1 Health Risk Pathogenic Polyglucosan body myopathy type 1, Polyglucosan body myopathy type 1
RS746197812 SERPINA1 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS746197874 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Lymphangiomyomatosis
RS746199600 CHRNE Health Risk Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS746199977 EPHB4 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS746200097 INVS Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Inborn genetic diseases
RS746200741 FANCL Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group L
RS746200792 SZT2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 18
RS746201051 SLC25A22 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS746201268 LAMA2 Health Risk Pathogenic/Likely pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS746201648 CLDN19 Health Risk Pathogenic —
RS746201757 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS746202667 GLI3 Health Risk Conflicting classifications of pathogenicity Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS746203687 EXTL3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746204528 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group I, Fanconi anemia
RS746206163 RTN4IP1 Health Risk Pathogenic —
RS746206314 RB1CC1 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS746206386 POLH Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum variant type, Xeroderma pigmentosum variant type
RS746206409 TINF2 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Dyskeratosis congenita
RS746206847 ARSB Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS746207524 AR Health Risk Likely pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS746208168 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS746208814 TYR Health Risk Pathogenic —
RS746209011 IDH3B Health Risk Conflicting classifications of pathogenicity —
RS746209182 BCHE Health Risk Likely pathogenic —
RS746209887 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS746210439 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Inborn genetic diseases
RS746211772 PDE6B Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa
RS746211825 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS746212067 VWA1 Health Risk Pathogenic/Likely pathogenic Neuronopathy, distal hereditary motor
RS746212127 MAN1B1 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Rafiq syndrome
RS746212325 INPP5E Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Joubert syndrome and related disorders
RS746212575 LTBP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746212816 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS746213168 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS746213369 TSHR Health Risk Pathogenic/Likely pathogenic —
RS746213600 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746213819 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS746214033 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS746215131 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS746216803 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Autosomal recessive nonsyndromic hearing loss 97
RS746216837 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS746217497 PLA2G6 Health Risk Conflicting classifications of pathogenicity PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy
RS746218503 TUBGCP6 Health Risk Conflicting classifications of pathogenicity Microcephaly and chorioretinopathy 1, Microcephaly and chorioretinopathy 1
RS746218707 BLM Health Risk Likely pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS746218761 MPZL2 Health Risk Pathogenic Hearing loss, autosomal recessive 111
RS746219041 SETD2 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Inborn genetic diseases
RS746219091 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS746219370 MMAB Health Risk Likely pathogenic Methylmalonic aciduria, cblB type
RS746219497 RSRC1 Health Risk Pathogenic Inborn genetic diseases, Intellectual developmental disorder
RS746219926 DNAL1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS746220021 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS746220263 CASZ1 Health Risk Conflicting classifications of pathogenicity —
RS746220304 CYP4V2 Health Risk Pathogenic —
RS746220312 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS746220436 VAMP1 Health Risk Pathogenic/Likely pathogenic Myasthenic syndrome, congenital
RS746220721 CERKL Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 26, Retinal dystrophy
RS746221227 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS746221967 STAT3 Health Risk Conflicting classifications of pathogenicity Hyper-IgE recurrent infection syndrome 1, autosomal dominant
RS746222099 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS746222222 TTN Health Risk Conflicting classifications of pathogenicity —
RS746222594 DNAJC5 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Ceroid lipofuscinosis
RS746222626 CFH Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 4, Age related macular degeneration 4
RS746222908 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS746223377 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Early-onset myopathy with fatal cardiomyopathy
RS746224733 SYNGAP1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS746225322 WDPCP Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 15, Bardet-Biedl syndrome
RS746227955 RPGRIP1L Health Risk Likely pathogenic RPGRIP1L-related disorder, Joubert syndrome 7
RS746229304 HFM1 Health Risk Pathogenic Azoospermia, Azoospermia
RS746230397 LAMB2 Health Risk Likely pathogenic LAMB2-related infantile-onset nephrotic syndrome, LAMB2-related infantile-onset nephrotic syndrome
RS746231039 CFC1 Health Risk Conflicting classifications of pathogenicity Heterotaxy, visceral
RS746231785 BMPR1A Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS746233157 UPF3B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Syndromic X-linked intellectual disability 14
RS746233571 GLIS2 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 7, Nephronophthisis
RS746234584 DTNBP1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 7, Hermansky-Pudlak syndrome 7
RS746234949 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS746235533 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS746236214 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS746236656 IFT80 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy
RS746237272 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS746237539 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS746238212 MERTK Health Risk Pathogenic Retinitis pigmentosa, Retinal dystrophy
RS746238617 SLC26A4 Health Risk Pathogenic/Likely pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS746239590 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS746241201 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS746241281 MC4R Health Risk Pathogenic/Likely pathogenic BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
RS746241591 SCN9A Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 7
RS746242380 DNAAF19 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Absent inner and outer dynein arms
RS746243052 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS746243061 CTSD Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS746243573 PKHD1L1 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 124, Autosomal recessive nonsyndromic hearing loss 124
RS746243637 NPHP4 Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS746244182 BLM Health Risk Pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS746244631 DDC Health Risk Pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
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