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
RS774010006 SGSH Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS774011311 TMEM67 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS774011358 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
RS774013796 POMK Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS774013935 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS774014588 HPDL Health Risk Pathogenic Spastic paraplegia, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
RS774015258 CASP8 Health Risk Conflicting classifications of pathogenicity Autoimmune lymphoproliferative syndrome type 2B, Autoimmune lymphoproliferative syndrome type 2B
RS774015430 DLL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774015502 RCBTB1 Health Risk Likely pathogenic —
RS774016801 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS77401687 BLK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 11, BLK-related disorder
RS774016937 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS774018511 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS774018674 CRELD1 Health Risk Pathogenic Atrioventricular septal defect, susceptibility to
RS774019483 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS774020236 NDUFB9 Health Risk Conflicting classifications of pathogenicity —
RS774020682 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS774022115 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS774022852 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Inborn genetic diseases
RS774024734 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS774024906 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS774026652 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS774026720 KCTD7 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 3, Progressive myoclonic epilepsy type 3
RS774027004 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS774027102 NCF2 Health Risk Conflicting classifications of pathogenicity Granulomatous disease, chronic
RS774027595 TTR Health Risk Conflicting classifications of pathogenicity Amyloidosis, hereditary systemic 1
RS774028311 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS774028495 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS774029027 PNPLA6 Health Risk Likely pathogenic Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS774029071 PSAP Health Risk Conflicting classifications of pathogenicity Sphingolipid activator protein 1 deficiency, Inborn genetic diseases
RS774029159 PIEZO2 Health Risk Likely pathogenic —
RS774029336 GALNT12 Health Risk Conflicting classifications of pathogenicity —
RS774030578 AGXT Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria, type I
RS774030917 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS774032338 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS774032732 TTN Health Risk Likely pathogenic —
RS774034198 COL1A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, arthrochalasia type
RS774034389 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS774034606 F12 Health Risk Pathogenic Hereditary angioedema type 3, Hereditary angioedema type 3
RS774035109 BBS12 Health Risk Likely pathogenic Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12
RS774035439 DDX54 Health Risk Likely pathogenic Intellectual disability, Neurodevelopmental delay
RS774035449 STIL Health Risk Conflicting classifications of pathogenicity —
RS774035582 COL12A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS774037351 HPS5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774037693 PIGV Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774038272 SLCO2A1 Health Risk Pathogenic/Likely pathogenic Hypertrophic osteoarthropathy, primary
RS774039277 SLC6A5 Health Risk Conflicting classifications of pathogenicity Hyperekplexia 3, Hyperekplexia 3
RS774039786 DOCK7 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 23
RS774041089 ALDH5A1 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS774041613 CYP11B2 Health Risk Pathogenic Corticosterone 18-monooxygenase deficiency, Corticosterone methyloxidase type 2 deficiency
RS774043076 SDHA Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex II deficiency
RS774043430 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774044026 FREM1 Health Risk Likely pathogenic —
RS774044430 DGAT2 Health Risk Conflicting classifications of pathogenicity —
RS774044532 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS774044758 ZNF341 Health Risk Conflicting classifications of pathogenicity —
RS774045142 COL1A1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Osteogenesis imperfecta type I
RS774045741 CACNA1H Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Idiopathic generalized epilepsy
RS774045808 LAMB2 Health Risk Conflicting classifications of pathogenicity Pierson syndrome, LAMB2-related disorder
RS774046285 ABCA1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS774046373 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS774047299 ALDH18A1 Health Risk Conflicting classifications of pathogenicity ALDH18A1-related de Barsy syndrome, Cutis laxa
RS774047416 BSND Health Risk Pathogenic —
RS774047474 KMT2B Health Risk Conflicting classifications of pathogenicity —
RS774047625 ERCC8 Health Risk Likely pathogenic Cockayne syndrome type 1, Cockayne syndrome
RS774047684 TRMU Health Risk Conflicting classifications of pathogenicity Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Aminoglycoside-induced deafness
RS774047700 DYSF Health Risk Pathogenic/Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, DYSF-related disorder
RS774048414 CAPN3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS774048743 CAPN3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS774048847 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS774049520 TMEM222 Health Risk Pathogenic Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities, Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities
RS774049893 ACOX1 Health Risk Conflicting classifications of pathogenicity Acyl-CoA oxidase deficiency, ACOX1-related disorder
RS774050795 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS774051471 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS774052068 BTD Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, BTD-related disorder
RS774052186 DONSON Health Risk Pathogenic Meier-Gorlin syndrome, Meier-Gorlin syndrome
RS774054025 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS774054592 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS774054837 RAB7A Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2B, Charcot-Marie-Tooth disease type 2B
RS774055207 SRCAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774055989 DSCAML1 Health Risk Conflicting classifications of pathogenicity —
RS774056037 TOE1 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 7, Pontocerebellar hypoplasia type 7
RS774056663 PCDH15 Health Risk Conflicting classifications of pathogenicity Nonsyndromic Deafness, Usher syndrome
RS774057025 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS774059974 KCNQ1 Health Risk Conflicting classifications of pathogenicity Short QT syndrome type 2, Long QT syndrome 1
RS774060871 MYO16 Health Risk Likely pathogenic MYO16-associated developmental delay, MYO16-associated developmental delay
RS774060880 PIK3CG Health Risk Pathogenic Immunodeficiency 97 with autoinflammation, Immunodeficiency 97 with autoinflammation
RS774061491 MEFV Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Familial Mediterranean fever
RS774061725 BMPR1A Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS774063464 ERCC3 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum group B, Xeroderma pigmentosum group B
RS774064952 MOS Health Risk Pathogenic Oocyte/zygote/embryo maturation arrest 20, Oocyte/zygote/embryo maturation arrest 20
RS774064976 KDM1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774065012 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS774066804 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS774067157 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS774068079 TRDN Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 5, Cardiovascular phenotype
RS774068411 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS774068657 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS774068671 PHKB Health Risk Pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS774068992 MANBA Health Risk Conflicting classifications of pathogenicity Beta-D-mannosidosis, Beta-D-mannosidosis
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