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
RS1176222161 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS117626343 SLC5A5 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 1, Thyroid dyshormonogenesis 1
RS1176301490 SNAP29 Health Risk Pathogenic —
RS1176314553 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Usher syndrome type 2A
RS1176335599 HNF4A Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS1176339464 POMGNT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
RS1176350430 POLH Health Risk Pathogenic Xeroderma pigmentosum variant type, Xeroderma pigmentosum variant type
RS1176366316 GOSR2 Health Risk Pathogenic Progressive myoclonic epilepsy, Progressive myoclonic epilepsy
RS117639561 SULF1 Health Risk Conflicting classifications of pathogenicity —
RS1176397159 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1176402115 UPB1 Health Risk Conflicting classifications of pathogenicity Deficiency of beta-ureidopropionase, Inborn genetic diseases
RS1176407542 NEB Health Risk Pathogenic Nemaline myopathy 2, NEB-related disorder
RS117642173 RECQL4 Health Risk Pathogenic Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome
RS1176445102 CLN8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS117646477 GATA6 Health Risk Conflicting classifications of pathogenicity Atrioventricular septal defect 5, Neonatal insulin-dependent diabetes mellitus
RS117647282 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS1176474582 ALPL Health Risk Pathogenic/Likely pathogenic Infantile hypophosphatasia, Hypophosphatasia
RS1176480523 ANO5 Health Risk Pathogenic —
RS1176505942 ANO10 Health Risk Pathogenic —
RS1176517015 EXOSC9 Health Risk Pathogenic —
RS1176521918 LMOD3 Health Risk Pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS1176526663 RGS9 Health Risk Likely pathogenic —
RS1176542971 MYO18B Health Risk Pathogenic —
RS1176553821 TYRP1 Health Risk Pathogenic/Likely pathogenic —
RS1176555010 SCO1 Health Risk Pathogenic Mitochondrial complex IV deficiency, nuclear type 1
RS1176555925 DBT Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS117656396 MPL Health Risk Conflicting classifications of pathogenicity Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS1176567641 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1176571450 CNGA1 Health Risk Pathogenic —
RS1176579720 ADAMTSL4 Health Risk Pathogenic —
RS117659667 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS117661165 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
RS117662905 FOXP2 Health Risk Conflicting classifications of pathogenicity Childhood apraxia of speech, Childhood apraxia of speech
RS1176639498 RTN2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS1176654400 HK1 Health Risk Pathogenic/Likely pathogenic Hemolytic anemia due to hexokinase deficiency, Hemolytic anemia due to hexokinase deficiency
RS1176654682 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1176659689 GCK Health Risk Likely pathogenic —
RS1176670439 MYH6 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 14
RS117667651 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS117668001 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS1176694083 RDH11 Health Risk Pathogenic —
RS117670586 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Rothmund-Thomson syndrome
RS1176709391 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS1176710652 INVS Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS117672175 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Ehlers-Danlos syndrome
RS1176723126 FOXE3 Health Risk Pathogenic Congenital primary aphakia, Anterior segment dysgenesis
RS1176732027 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS1176738073 EVC2 Health Risk Pathogenic/Likely pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS1176744330 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS1176770868 CBS Health Risk Conflicting classifications of pathogenicity Classic homocystinuria, CBS-related disorder
RS1176780540 G6PC1 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS117678424 PTF1A Health Risk Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, Neonatal insulin-dependent diabetes mellitus
RS117678561 LAMA5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS117678693 CHIT1 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS1176797481 RNASEH2B Health Risk Pathogenic/Likely pathogenic Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2
RS1176799813 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS1176811808 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS1176822890 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS117683234 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, SPG11-related disorder
RS1176835993 TDRD12 Health Risk Likely pathogenic Male infertility, Male infertility
RS1176843691 LOX Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1176851202 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS117685425 SLC24A1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1D, Congenital stationary night blindness 1D
RS117685582 CYP24A1 Health Risk Conflicting classifications of pathogenicity Hypercalcemia, infantile
RS1176858193 GCK Health Risk Uncertain significance/Uncertain risk allele Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young
RS1176869304 PRPF8 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS117687681 CBS Health Risk Conflicting classifications of pathogenicity Classic homocystinuria, Connective tissue disorder
RS117687848 ALG12 Health Risk Conflicting classifications of pathogenicity ALG12-congenital disorder of glycosylation, ALG12-related disorder
RS117688560 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS117688574 COG6 Health Risk Conflicting classifications of pathogenicity COG6-congenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
RS117688924 P3H2 Health Risk Conflicting classifications of pathogenicity Myopia, high
RS1176902020 C8B Health Risk Pathogenic/Likely pathogenic C8B-related disorder, C8B-related disorder
RS1176910976 NME8 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 6, Primary ciliary dyskinesia
RS1176911729 CCNO Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1176922412 COL1A1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Osteogenesis imperfecta type I
RS1176927796 CC2D2A Health Risk Likely pathogenic —
RS1176952770 BCKDHA Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS1176959485 RECQL4 Health Risk Likely pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1176960115 ALDOB Health Risk Conflicting classifications of pathogenicity Hereditary fructosuria, Hereditary fructosuria
RS1176975147 PGAP1 Health Risk Likely pathogenic —
RS1176988972 NRK Health Risk Conflicting classifications of pathogenicity —
RS1176993096 PIEZO2 Health Risk Likely pathogenic Arthrogryposis, distal
RS1176998293 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS1177043110 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, RAD51C-related disorder
RS1177052380 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 25
RS1177054873 SLCO2A1 Health Risk Pathogenic Hypertrophic osteoarthropathy, primary
RS117706710 AMPD3 Health Risk Conflicting classifications of pathogenicity Erythrocyte AMP deaminase deficiency, AMPD3-related disorder
RS1177091005 MYO18B Health Risk Pathogenic —
RS1177091667 ALDH5A1 Health Risk Pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS117710834 TRMU Health Risk Conflicting classifications of pathogenicity Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
RS117711403 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS1177166077 WRN Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS1177198729 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1177201180 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS1177246173 BBS12 Health Risk Likely pathogenic Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12
RS1177257719 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS117725825 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS1177268940 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS1177306016 GUSB Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS1177306699 RIT1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 8, Cardiovascular phenotype
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