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
RS1329070853 ASL Health Risk Pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1329101309 AMPD2 Health Risk Pathogenic Pontocerebellar hypoplasia type 9, Pontocerebellar hypoplasia type 9
RS1329112134 PAX6 Health Risk Pathogenic Irido-corneo-trabecular dysgenesis, Aniridia 1
RS1329127252 TRIOBP Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 28, Autosomal recessive nonsyndromic hearing loss 28
RS1329127701 ENG Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1329129099 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS1329133410 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS1329160503 PRR12 Health Risk Pathogenic complex microphthalmia, Neuroocular syndrome 1
RS1329170892 PNPT1 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 13, Combined oxidative phosphorylation defect type 13
RS1329201909 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1329226132 LZTR1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1329227520 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1329228660 ARX Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS1329240441 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1329255995 CLN5 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS1329261791 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1329285216 RBP4 Health Risk Conflicting classifications of pathogenicity Microphthalmia, Congenital ocular coloboma
RS1329286555 IMPG1 Health Risk Pathogenic —
RS1329286592 MRE11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder
RS1329301077 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1329322647 PDHA1 Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase complex deficiency
RS1329331221 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS1329359780 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1329360838 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS1329394489 SNX14 Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 20, Autosomal recessive spinocerebellar ataxia 20
RS1329421967 ALMS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alstrom syndrome
RS1329424461 MTHFD1 Health Risk Likely pathogenic Neural tube defects, folate-sensitive
RS1329427406 IL10RB Health Risk Pathogenic/Likely pathogenic Inflammatory bowel disease 25, Inflammatory bowel disease 25
RS1329438711 RICTOR Health Risk Likely pathogenic Premature ovarian failure, Premature ovarian failure
RS1329440649 CLRN1 Health Risk Likely pathogenic Retinitis pigmentosa 61, Usher syndrome type 3A
RS1329445100 EPB42 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1329461088 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cowden syndrome 1
RS1329466833 TBCE Health Risk Pathogenic/Likely pathogenic Autosomal recessive Kenny-Caffey syndrome, Encephalopathy
RS1329479941 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1329481396 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1329504858 SMCHD1 Health Risk Pathogenic Scapulohumeral muscular dystrophy, Scapulohumeral muscular dystrophy
RS1329527659 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS1329534393 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS1329542100 GPR179 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1E, Congenital stationary night blindness 1E
RS1329552995 TTC8 Health Risk Likely pathogenic Retinitis pigmentosa 51, Hepatocellular carcinoma
RS1329580446 POLA2 Health Risk Conflicting classifications of pathogenicity Telomere Biology Disorder, Telomere Biology Disorder
RS1329606728 USH1G Health Risk Pathogenic —
RS1329610577 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Cardiovascular phenotype
RS1329653090 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS1329659775 CHD8 Health Risk Pathogenic —
RS1329661241 INVS Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Infantile nephronophthisis
RS1329664706 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS1329683225 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS1329710441 CYP27B1 Health Risk Conflicting classifications of pathogenicity Vitamin D-dependent rickets, type 1A
RS1329724571 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1329745881 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS13297509 INPP5E Health Risk Pathogenic/Likely pathogenic Joubert syndrome 1, Joubert syndrome
RS1329751221 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS1329751426 COX15 Health Risk Pathogenic —
RS1329762657 ARCN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1329771201 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS1329826610 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1329836511 C6 Health Risk Pathogenic Complement component 6 deficiency, Complement component 6 deficiency
RS1329856696 IFT172 Health Risk Pathogenic/Likely pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS1329907808 SCN9A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 7
RS1329926209 B3GALT6 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, spondylodysplastic type
RS1329932861 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1329973329 FLNC Health Risk Pathogenic Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS1330009938 COG5 Health Risk Pathogenic COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS1330017675 LDLRAP1 Health Risk Pathogenic Hypercholesterolemia, familial
RS1330021955 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1330043219 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, MYH9-related disorder
RS1330054460 MYT1L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS1330065864 EFL1 Health Risk Likely pathogenic Shwachman-Diamond syndrome 2, Shwachman syndrome
RS1330089369 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1330094451 HPS1 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1
RS1330106644 GORAB Health Risk Pathogenic Geroderma osteodysplastica, Geroderma osteodysplastica
RS1330112951 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS1330115613 TBCK Health Risk Pathogenic/Likely pathogenic —
RS1330118854 HIVEP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1330131800 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1330135890 ABCA4 Health Risk Pathogenic —
RS1330180462 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1330220728 TECTA Health Risk Pathogenic Monogenic hearing loss, Monogenic hearing loss
RS1330230723 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS1330247874 TSHR Health Risk Pathogenic/Likely pathogenic Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations
RS1330263985 CNGA3 Health Risk Likely pathogenic Achromatopsia 2, Achromatopsia 2
RS1330306605 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1330309030 ARID1A Health Risk Conflicting classifications of pathogenicity —
RS1330332139 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy, Nemaline myopathy
RS1330361513 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1330366594 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS1330378388 SATB2 Health Risk Pathogenic Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS1330405287 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1330406146 MYO15A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS1330407036 HPS6 Health Risk Pathogenic —
RS1330413908 EIF2B5 Health Risk Conflicting classifications of pathogenicity Vanishing white matter disease, Vanishing white matter disease
RS1330420689 CNGA3 Health Risk Pathogenic Achromatopsia 2, Achromatopsia 2
RS1330431481 CFTR Health Risk Pathogenic Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1
RS1330462697 IMPDH2 Health Risk Likely pathogenic Dystonic disorder, Dystonic disorder
RS1330485324 ANKRD26 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 2, Inborn genetic diseases
RS1330487131 GRIN2D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1330496818 HPS3 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS1330515772 COL7A1 Health Risk Pathogenic —
RS1330517530 FANCE Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group E, Inborn genetic diseases
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