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
RS140492803 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, FRAS1-related disorder
RS140494005 PKD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140494140 CRB1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 8, Retinitis pigmentosa
RS140494987 ARHGEF18 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1404957845 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS140496149 MAN1B1 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Inborn genetic diseases
RS140496395 G6PD Health Risk Conflicting classifications of pathogenicity G6PD deficiency, Anemia
RS140497736 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS1404977690 DST Health Risk Likely pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS140499200 PGM3 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 23, Inborn genetic diseases
RS140499958 ARSL Health Risk Conflicting classifications of pathogenicity Chondrodysplasia punctata, brachytelephalangic
RS1405000889 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
RS140500816 HGD Health Risk Conflicting classifications of pathogenicity Alkaptonuria, Alkaptonuria
RS1405016852 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS140501920 GHR Health Risk Conflicting classifications of pathogenicity —
RS1405020783 NMNAT1 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 9, Leber congenital amaurosis 9
RS1405021041 PNPLA6 Health Risk Pathogenic Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS140502196 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS1405022793 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1405024198 MSH3 Health Risk Conflicting classifications of pathogenicity MSH3-related disorder, MSH3-related disorder
RS140502726 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS140503215 FBN1 Health Risk Conflicting classifications of pathogenicity 8 conditions, Familial thoracic aortic aneurysm and aortic dissection
RS1405032433 SPG11 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1405035752 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 4, Autosomal dominant nocturnal frontal lobe epilepsy
RS140505250 ARR3 Health Risk Conflicting classifications of pathogenicity Anophthalmia-microphthalmia syndrome, Anophthalmia-microphthalmia syndrome
RS1405058032 COL11A2 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia
RS140505857 CCDC39 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 14, Primary ciliary dyskinesia
RS1405059699 FANCM Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia
RS140506267 DMRT1 Health Risk Conflicting classifications of pathogenicity Non-obstructive azoospermia, Non-obstructive azoospermia
RS1405064021 CRTAP Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS1405067373 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS140507581 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS1405076980 PCDH15 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1F
RS1405080200 PLEKHG5 Health Risk Likely pathogenic Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy
RS1405082840 BBS12 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1405092589 GATA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Deafness-lymphedema-leukemia syndrome
RS140509598 HSPG2 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, HSPG2-related disorder
RS140510298 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS140510381 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Malignant tumor of breast
RS1405105860 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS140510985 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS1405110509 PRDM5 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS1405113457 KCNH2 Health Risk Likely pathogenic Prolonged QT interval, Long QT syndrome
RS140511415 COMP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140511594 TTC21B Health Risk Pathogenic/Likely pathogenic Nephronophthisis 12, Jeune thoracic dystrophy
RS140512094 CEP104 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 25, Inborn genetic diseases
RS140512096 VPS13A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1405125406 ACAN Health Risk Pathogenic —
RS140512665 SERPINF1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 6, Osteogenesis imperfecta
RS140513387 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS1405146099 MAN1B1 Health Risk Likely pathogenic —
RS140515130 FRMPD4 Health Risk Conflicting classifications of pathogenicity —
RS140515221 CRYBB1 Health Risk Conflicting classifications of pathogenicity Cataract 17 multiple types, Inborn genetic diseases
RS140515579 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS140515828 CA4 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Lung cancer
RS140516168 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1F, Inborn genetic diseases
RS140516220 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS140516819 EGFR Health Risk Likely pathogenic EGFR-related lung cancer, Lung cancer
RS140516872 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, GLDC-related disorder
RS140517685 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A1-related disorder
RS140518698 DNMT3B Health Risk Conflicting classifications of pathogenicity Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Centromeric instability of chromosomes 1
RS140519790 CLN6 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Inborn genetic diseases
RS1405203955 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS140522180 ERCC2 Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum, Cerebrooculofacioskeletal syndrome 2
RS140522266 MMACHC Health Risk Pathogenic/Likely pathogenic Cobalamin C disease, Disorders of Intracellular Cobalamin Metabolism
RS140523053 TRIM63 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, TRIM63-related disorder
RS140523180 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS140524715 PDE6C Health Risk Conflicting classifications of pathogenicity Achromatopsia, Cone dystrophy 4
RS140524729 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 1
RS140524886 BLM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Bloom syndrome
RS1405252481 CDK13 Health Risk Pathogenic/Likely pathogenic Congenital heart defects, dysmorphic facial features
RS1405260211 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS140526185 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1405264241 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS140526640 SULT2B1 Health Risk Likely pathogenic Ichthyosis, congenital
RS1405268319 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 4b
RS140526832 HDAC4 Health Risk Conflicting classifications of pathogenicity —
RS140527143 MYH2 Health Risk Conflicting classifications of pathogenicity Myopathy, proximal
RS1405271436 XPA Health Risk Pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS140527463 EHHADH Health Risk Conflicting classifications of pathogenicity EHHADH-related disorder, EHHADH-related disorder
RS1405276816 DNAI1 Health Risk Pathogenic Kartagener syndrome, Primary ciliary dyskinesia
RS1405279061 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS140528177 ZNF335 Health Risk Conflicting classifications of pathogenicity ZNF335-related disorder, Inborn genetic diseases
RS140528998 TBX19 Health Risk Pathogenic Congenital isolated adrenocorticotropic hormone deficiency, Congenital isolated adrenocorticotropic hormone deficiency
RS140530307 AIP Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial isolated pituitary adenoma
RS1405317971 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1405323358 GRIK2 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, Neurodevelopmental disorder with impaired language and ataxia and with or without seizures
RS140532390 GLUD2 Health Risk Likely pathogenic Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation
RS140533677 IFNAR2 Health Risk Conflicting classifications of pathogenicity Hepatitis B virus, susceptibility to
RS140533848 TSHR Health Risk Conflicting classifications of pathogenicity Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations
RS1405341259 BRCA2 Health Risk Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS140534199 TRRAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140534207 COL6A1 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS1405344068 ASL Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Inborn genetic diseases
RS140534514 HR Health Risk Conflicting classifications of pathogenicity Atrichia with papular lesions, Alopecia universalis congenita
RS140534766 KIF11 Health Risk Conflicting classifications of pathogenicity —
RS140535889 TRPV4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2C, Neuronopathy
RS1405359814 HSPB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2F, Charcot-Marie-Tooth disease axonal type 2F
RS140536267 ORC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140536982 PYROXD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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