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
RS775360097 TBCE Health Risk Pathogenic —
RS775360286 ABAT Health Risk Likely pathogenic Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS775361471 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1F, Inborn genetic diseases
RS775362248 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS775362401 KCNQ1 Health Risk Likely pathogenic Long QT syndrome, Cardiac arrhythmia
RS775362512 LZTR1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS775362871 GYS1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency
RS775363555 JAG1 Health Risk Conflicting classifications of pathogenicity Isolated Nonsyndromic Congenital Heart Disease, Alagille syndrome due to a JAG1 point mutation
RS775363690 PRDM16 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 8, Left ventricular noncompaction 8
RS775363857 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS775364547 SPG7 Health Risk Pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS775364669 NAGLU Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS775364986 AIPL1 Health Risk Likely pathogenic Leber congenital amaurosis, Leber congenital amaurosis 4
RS775365939 RAD51D Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS775367319 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4
RS775367836 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS775367880 RP1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 1
RS775367961 PEX16 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS775368605 EP300 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 18
RS775369084 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS775370485 ATP8B1 Health Risk Pathogenic/Likely pathogenic Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1
RS775371644 MLH1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS775372704 PRKG1 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 8
RS775373016 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS775373641 COL4A3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome, Autosomal dominant Alport syndrome
RS775373948 COL18A1 Health Risk Pathogenic —
RS775374887 TTN Health Risk Likely pathogenic —
RS775375543 NAA15 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775375977 KRIT1 Health Risk Conflicting classifications of pathogenicity Cerebral cavernous malformation, Cerebral cavernous malformation
RS775377117 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS775377530 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Inborn genetic diseases
RS775377647 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS775378782 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS775379047 PIGG Health Risk Pathogenic Intellectual disability, autosomal recessive 53
RS775380022 WNT10A Health Risk Conflicting classifications of pathogenicity Odonto-onycho-dermal dysplasia, Tooth agenesis
RS775380378 SEC23B Health Risk Pathogenic Congenital dyserythropoietic anemia, type II
RS775381308 SCN3A Health Risk Conflicting classifications of pathogenicity —
RS775382618 MYPN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1KK, Dilated cardiomyopathy 1KK
RS775383465 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS775383795 ANO5 Health Risk Conflicting classifications of pathogenicity Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS775384507 CLCN1 Health Risk Likely pathogenic Batten-Turner congenital myopathy, Congenital myotonia
RS775384549 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775385114 CTSC Health Risk Pathogenic Periodontitis, aggressive 1
RS775385239 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ARID1B-related disorder
RS775385702 TRPV4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2C, Inborn genetic diseases
RS775385954 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS775386225 PLA2G6 Health Risk Pathogenic/Likely pathogenic PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy
RS775386507 BBS10 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS775387368 PCNT Health Risk Conflicting classifications of pathogenicity PCNT-related disorder, PCNT-related disorder
RS775387808 SLC45A2 Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism type 4, SKIN/HAIR/EYE PIGMENTATION 5
RS775388232 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS775388576 BCS1L Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Pili torti-deafness syndrome
RS775388912 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS775389411 ITGA3 Health Risk Likely pathogenic Epidermolysis bullosa, junctional 7
RS775389963 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, HSPG2-related disorder
RS775390721 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS775391904 KCNQ5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775391997 ALDH6A1 Health Risk Pathogenic Methylmalonate semialdehyde dehydrogenase deficiency, Methylmalonate semialdehyde dehydrogenase deficiency
RS775392484 TTN Health Risk Conflicting classifications of pathogenicity —
RS775393005 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Early-onset myopathy with fatal cardiomyopathy
RS775394111 MPDZ Health Risk Likely pathogenic MPDZ-related disorder, Hydrocephalus
RS775394591 FREM2 Health Risk Likely pathogenic Congenital diaphragmatic hernia, Congenital diaphragmatic hernia
RS775395101 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS775395168 NBAS Health Risk Conflicting classifications of pathogenicity Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Short stature-optic atrophy-Pelger-Huët anomaly syndrome
RS775395648 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS775395972 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS775396042 DOCK8 Health Risk Pathogenic —
RS775396957 SLC39A13 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, spondylocheirodysplastic type
RS775397068 DOCK6 Health Risk Pathogenic/Likely pathogenic Adams-Oliver syndrome 2, Adams-Oliver syndrome 2
RS775397251 GNPAT Health Risk Pathogenic/Likely pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS775397477 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS775398717 CACNA1E Health Risk Conflicting classifications of pathogenicity —
RS775399371 TPM2 Health Risk Pathogenic —
RS775399423 FREM1 Health Risk Conflicting classifications of pathogenicity Oculotrichoanal syndrome, BNAR syndrome
RS775399750 AMER1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775399768 GFPT1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12
RS77539990 NUBPL Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS775401012 COL9A2 Health Risk Likely pathogenic Epiphyseal dysplasia, multiple
RS775401701 TG Health Risk Likely pathogenic —
RS775402365 SETD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Inborn genetic diseases
RS775402871 WHRN Health Risk Conflicting classifications of pathogenicity —
RS775404479 CTRC Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS775404728 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4
RS775405041 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS775405524 LAMB3 Health Risk Pathogenic —
RS775406327 CHD2 Health Risk Pathogenic —
RS775406459 MOCOS Health Risk Pathogenic Xanthinuria type II, Xanthinuria type II
RS775406498 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS775406885 BSND Health Risk Conflicting classifications of pathogenicity —
RS775407589 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS775407864 EZH2 Health Risk Conflicting classifications of pathogenicity Weaver syndrome, Weaver syndrome
RS775408408 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS775410068 COL10A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775410341 ABCC2 Health Risk Pathogenic Dubin-Johnson syndrome, Dubin-Johnson syndrome
RS775410637 TH Health Risk Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS775412266 RAG1 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS775412545 HMCN1 Health Risk Conflicting classifications of pathogenicity —
RS775414084 MCM3AP Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS775414124 DYM Health Risk Pathogenic Smith-McCort dysplasia 1, Dyggve-Melchior-Clausen syndrome
RS775414253 ERCC4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group Q, Xeroderma pigmentosum
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