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
RS369050350 BICD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
RS369050575 TBX1 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, Cardiovascular phenotype
RS369050822 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS369052118 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Vesicoureteral reflux 8
RS369052669 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS369053765 HPS4 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 4
RS369054525 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS369054652 ATP8B1 Health Risk Pathogenic Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1
RS369055445 ITPR1 Health Risk Conflicting classifications of pathogenicity —
RS369055628 DMD Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 3B, Duchenne muscular dystrophy
RS369055649 GFPT1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12
RS369055984 CHST3 Health Risk Conflicting classifications of pathogenicity Spondyloepiphyseal dysplasia with congenital joint dislocations, CHST3-related disorder
RS369056903 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1B, Usher syndrome type 1B
RS369056998 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS369058266 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369058374 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS369058382 ANO5 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS369058466 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS369058620 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases
RS369058711 SCN1B Health Risk Conflicting classifications of pathogenicity Brugada syndrome 5, Brugada syndrome 5
RS369061090 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS369061211 ATP1A2 Health Risk Conflicting classifications of pathogenicity Migraine, familial hemiplegic
RS369061380 FHOD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369062548 WFS1 Health Risk Likely pathogenic Auditory neuropathy, Auditory neuropathy
RS369063299 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS369063468 CYP4V2 Health Risk Pathogenic Retinal dystrophy, Bietti crystalline corneoretinal dystrophy
RS369064014 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, Inborn genetic diseases
RS369064312 LDHB Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency, Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
RS369065146 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS369065223 HPRT1 Health Risk Pathogenic Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome
RS369066052 PCNT Health Risk Likely pathogenic Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS369066076 BBS10 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS369066088 DKC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Dyskeratosis congenita
RS369066480 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS369067040 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS369067856 PCSK9 Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Cardiovascular phenotype
RS369067940 NOTCH1 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 1, Adams-Oliver syndrome 5
RS369068461 PIWIL1 Health Risk Likely pathogenic Male infertility, Male infertility
RS369068553 GBA1 Health Risk Conflicting classifications of pathogenicity Gaucher disease type I, Gaucher disease type I
RS369068922 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS369068948 EPB42 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 5, Inborn genetic diseases
RS369069440 CCDC88C Health Risk Conflicting classifications of pathogenicity Hydrocephalus, nonsyndromic
RS369069489 MICU1 Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS369069912 KCNV2 Health Risk Pathogenic —
RS369070550 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS369070738 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS369071579 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS369071633 GFM2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation deficiency 39, Combined oxidative phosphorylation deficiency 39
RS369072310 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS369072402 KAT6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369072636 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS369073682 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS369074083 ABCC6 Health Risk Conflicting classifications of pathogenicity See cases, Inborn genetic diseases
RS369074496 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369075403 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS369075832 BBS5 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 5
RS369076029 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS369076375 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS369076851 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS369077117 TBCK Health Risk Conflicting classifications of pathogenicity Hypotonia, infantile
RS369077520 WDR62 Health Risk Conflicting classifications of pathogenicity —
RS369078097 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, DNAH11-related disorder
RS369078814 GNE Health Risk Conflicting classifications of pathogenicity GNE myopathy, Sialuria
RS369079645 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS369080027 SURF1 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Leigh syndrome
RS369080910 WDR35 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly
RS369081242 TTN Health Risk Conflicting classifications of pathogenicity —
RS369081376 INSR Health Risk Conflicting classifications of pathogenicity Insulin-resistant diabetes mellitus AND acanthosis nigricans, Insulin-resistant diabetes mellitus AND acanthosis nigricans
RS369081589 CCDC78 Health Risk Conflicting classifications of pathogenicity Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases
RS369082700 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS369082713 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS369082749 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, 6 conditions
RS369082833 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS369082921 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group C
RS369083173 MED12 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, FG syndrome
RS369083434 ADGRV1 Health Risk Conflicting classifications of pathogenicity ADGRV1-related disorder, ADGRV1-related disorder
RS369083541 MMP13 Health Risk Pathogenic/Likely pathogenic Metaphyseal chondrodysplasia, Spahr type
RS369083786 PYROXD1 Health Risk Pathogenic/Likely pathogenic Myofibrillar myopathy 8, Myofibrillar myopathy 8
RS369084150 COL18A1 Health Risk Conflicting classifications of pathogenicity Knobloch syndrome, COL18A1-related disorder
RS369084322 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS369084979 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS369086889 DCTN1 Health Risk Conflicting classifications of pathogenicity Perry syndrome, Amyotrophic lateral sclerosis type 1
RS369086894 NSD1 Health Risk Pathogenic —
RS369087584 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, TTN-related disorder
RS369087649 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS369087707 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS369087771 PRUNE1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with microcephaly, hypotonia
RS369088417 SMPD1 Health Risk Conflicting classifications of pathogenicity Sphingomyelin/cholesterol lipidosis, Lysosomal storage disease
RS369088928 COL4A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369089505 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 15
RS369090032 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS369090960 IDUA Health Risk Likely pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS369091041 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369091875 DCHS1 Health Risk Conflicting classifications of pathogenicity Van Maldergem syndrome 1, Van Maldergem syndrome 1
RS369092411 CUL7 Health Risk Conflicting classifications of pathogenicity CUL7-related disorder, CUL7-related disorder
RS369093036 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS369094355 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS369094478 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS369094716 EPG5 Health Risk Conflicting classifications of pathogenicity Vici syndrome, Inborn genetic diseases
RS369094974 LBR Health Risk Conflicting classifications of pathogenicity Greenberg dysplasia, Connective tissue disorder
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