SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS914897271 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
RS914930539 PROKR2 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 3 with or without anosmia, Amenorrhea
RS914933274 CIB1 Health Risk Likely pathogenic Epidermodysplasia verruciformis, susceptibility to
RS914939520 TPRN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS914942419 ACVR1 Health Risk Conflicting classifications of pathogenicity —
RS914996283 WFS1 Health Risk Uncertain significance/Uncertain risk allele Wolfram syndrome 1, Autosomal dominant nonsyndromic hearing loss 6
RS915028258 PCNT Health Risk Pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS915029037 DGKE Health Risk Pathogenic —
RS915031143 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 2
RS915070690 GALK1 Health Risk Conflicting classifications of pathogenicity Deficiency of galactokinase, Deficiency of galactokinase
RS915076855 INS Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 10, Diabetes mellitus
RS915158165 POLE Health Risk Likely pathogenic —
RS915170239 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS915195873 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS915211840 ATF6 Health Risk Pathogenic Achromatopsia 7, Achromatopsia 7
RS915226152 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, GLDC-related disorder
RS915243358 ZHX3 Health Risk Conflicting classifications of pathogenicity —
RS915262940 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS915264513 PLIN4 Health Risk Likely pathogenic Vacuolar Neuromyopathy, Vacuolar Neuromyopathy
RS915267492 ZNF292 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS915283074 KCNQ1 Health Risk Pathogenic/Likely pathogenic Long QT syndrome, Congenital long QT syndrome
RS915284509 DDX41 Health Risk Pathogenic —
RS915291720 FA2H Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Neurodegeneration with brain iron accumulation
RS9153 CHCHD10 Health Risk Conflicting classifications of pathogenicity Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
RS915318065 NEXN Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC
RS915321867 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Central core myopathy
RS915349596 PPP2CA Health Risk Pathogenic/Likely pathogenic Houge-Janssens syndrome 3, Houge-Janssens syndrome 3
RS915371303 DENND5A Health Risk Pathogenic —
RS915406565 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Inborn genetic diseases
RS915412371 HIBCH Health Risk Likely pathogenic 3-hydroxyisobutyryl-CoA hydrolase deficiency, Cervical cancer
RS915433180 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS915439029 WNT10A Health Risk Pathogenic Odonto-onycho-dermal dysplasia, Tooth agenesis
RS915463951 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS915474087 DHCR24 Health Risk Conflicting classifications of pathogenicity Desmosterolosis, Desmosterolosis
RS915505702 EYS Health Risk Likely pathogenic Central areolar choroidal dystrophy, Retinitis pigmentosa 25
RS915537128 ZBTB20 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS915583102 SLC7A7 Health Risk Pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS915594077 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Centronuclear myopathy
RS915603269 TRPM1 Health Risk Likely pathogenic —
RS915608304 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS915629293 ALG13 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 36
RS915675670 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS915676341 SCN1A Health Risk Conflicting classifications of pathogenicity Severe myoclonic epilepsy in infancy, Generalized epilepsy with febrile seizures plus
RS915692232 ELAC2 Health Risk Likely pathogenic —
RS915704394 DVL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS915727399 DDC Health Risk Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS915732285 HACE1 Health Risk Likely pathogenic —
RS915737037 TCTN2 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS915777286 ATP1A2 Health Risk Conflicting classifications of pathogenicity Migraine, familial hemiplegic
RS915801478 KIF1C Health Risk Likely pathogenic Spastic ataxia 2, Spastic ataxia 2
RS915805727 KCNQ2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, See cases
RS915825113 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS915826670 LRRK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS915848808 DNAAF5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS915854031 TERT Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS915858088 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS915901827 SMARCE1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial meningioma
RS915913191 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS915919248 CDK13 Health Risk Conflicting classifications of pathogenicity —
RS915919453 RMRP Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS915920618 SLC34A3 Health Risk Conflicting classifications of pathogenicity —
RS915925601 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS915976035 FBXO11 Health Risk Conflicting classifications of pathogenicity —
RS915983602 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Neuroblastoma
RS915983905 TTR Health Risk Conflicting classifications of pathogenicity Amyloidosis, hereditary systemic 1
RS915986128 MTR Health Risk Likely pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS915988161 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS916009547 LPIN2 Health Risk Pathogenic Majeed syndrome, Majeed syndrome
RS916035276 CNGA3 Health Risk Pathogenic Achromatopsia 2, Achromatopsia 2
RS916056435 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS916060836 DIS3L2 Health Risk Likely pathogenic Perlman syndrome, Perlman syndrome
RS916069743 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS916069875 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS916108093 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS916124670 FANCE Health Risk Likely pathogenic FANCE-related disorder, FANCE-related disorder
RS916130044 PNKP Health Risk Pathogenic Developmental and epileptic encephalopathy, 12
RS916132038 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS916139061 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS916172129 ADAMTS2 Health Risk Pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS916198158 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS916211345 PEX12 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS916276498 ABCB4 Health Risk Conflicting classifications of pathogenicity —
RS916300043 ALPL Health Risk Likely pathogenic Infantile hypophosphatasia, Adult hypophosphatasia
RS916309338 CAT Health Risk Likely pathogenic —
RS916319156 CDHR1 Health Risk Likely pathogenic —
RS916319528 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
RS916332384 MYO7A Health Risk Pathogenic Usher syndrome type 1, Usher syndrome type 1
RS916461556 ACSF3 Health Risk Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS916512411 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, 7 conditions
RS916516745 SDHB Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor
RS916567564 AHI1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Joubert syndrome 3
RS916571899 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS916582229 PTPRQ Health Risk Likely pathogenic Hearing loss, autosomal dominant 73
RS916583720 WT1 Health Risk Conflicting classifications of pathogenicity Frasier syndrome, Wilms tumor 1
RS916587979 AKR1D1 Health Risk Likely pathogenic —
RS916634082 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS916648829 RPA1 Health Risk Pathogenic Pulmonary fibrosis and/or bone marrow failure, telomere-related
RS916661191 BICD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Neuronopathy
RS916672722 MYO18B Health Risk Pathogenic —
RS916700413 LDB3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 4
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