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
RS138967360 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS1389677367 PDE8B Health Risk Pathogenic PDE8B-Related Disorders, PDE8B-Related Disorders
RS1389678247 ATP13A2 Health Risk Pathogenic Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome
RS138968113 CYP2U1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS138968139 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS138968466 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram-like syndrome, Inborn genetic diseases
RS1389684767 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS138968491 RHBDF2 Health Risk Conflicting classifications of pathogenicity Palmoplantar keratoderma-esophageal carcinoma syndrome, Inborn genetic diseases
RS138968608 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Inborn genetic diseases
RS138969270 KMT2A Health Risk Conflicting classifications of pathogenicity KMT2A-related disorder, KMT2A-related disorder
RS138969879 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Inborn genetic diseases
RS138970846 PDE6C Health Risk Conflicting classifications of pathogenicity Cone dystrophy 4, Achromatopsia
RS138970850 OTOGL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138970947 ADAMTS10 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138971379 DUOX2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Thyroid dyshormonogenesis 6
RS1389725640 USH1C Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C
RS138972988 BLK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 11, Systemic lupus erythematosus
RS1389741787 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1389742580 FLNC Health Risk Pathogenic Cardiovascular phenotype, Myofibrillar myopathy 5
RS138974583 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS138975401 CCNB3 Health Risk Conflicting classifications of pathogenicity —
RS138975725 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138975807 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, Inborn genetic diseases
RS1389758339 DNAJB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neuronopathy
RS138976133 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1389762829 SKIC3 Health Risk Pathogenic/Likely pathogenic Trichohepatoenteric syndrome, Trichohepatoenteric syndrome
RS1389763236 MAX Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS138976576 TPP1 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 2, Autosomal recessive spinocerebellar ataxia 7
RS138976689 CYLD Health Risk Conflicting classifications of pathogenicity Familial cylindromatosis, Brooke-Spiegler syndrome
RS138977195 SLC12A3 Health Risk Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia, Hypokalemia
RS1389777522 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1389778857 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1389779829 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
RS138978113 KIRREL3 Health Risk Conflicting classifications of pathogenicity —
RS1389783773 ACSF3 Health Risk Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS1389784921 RIPOR2 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 104, Autosomal recessive nonsyndromic hearing loss 104
RS1389794536 EYS Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 25
RS138979590 RPL5 Health Risk risk factor Diamond-Blackfan anemia 6, Diamond-Blackfan anemia 6
RS1389799347 GJC2 Health Risk Likely pathogenic —
RS138980048 GSDME Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 5, Autosomal dominant nonsyndromic hearing loss 5
RS1389811503 ACAD9 Health Risk Conflicting classifications of pathogenicity Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS138981491 CABP2 Health Risk Conflicting classifications of pathogenicity —
RS1389817466 MOCS2 Health Risk Pathogenic/Likely pathogenic —
RS1389821363 LHFPL5 Health Risk Likely pathogenic Hearing impairment, Hearing impairment
RS138982161 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, NPHP3-related Meckel-like syndrome
RS138982484 ARL13B Health Risk Pathogenic Joubert syndrome 8, Joubert syndrome 8
RS138982773 PKD2 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 2, Polycystic kidney disease 2
RS138983888 PCDH15 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23
RS138984221 MAPT Health Risk Conflicting classifications of pathogenicity MAPT-Related Spectrum Disorders, Frontotemporal dementia
RS138985089 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS138985151 SYN1 Health Risk Conflicting classifications of pathogenicity Epilepsy, X-linked 1
RS1389851824 LAMA3 Health Risk Pathogenic —
RS138986228 TRPV4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2C, Scapuloperoneal spinal muscular atrophy
RS1389863115 BEST1 Health Risk Pathogenic/Likely pathogenic Stargardt disease, Stargardt disease
RS1389866292 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS138986656 FERMT1 Health Risk Conflicting classifications of pathogenicity Kindler syndrome, Kindler syndrome
RS138986885 HNF1B Health Risk Conflicting classifications of pathogenicity Renal cysts and diabetes syndrome, HNF1B-related disorder
RS1389877870 PCDH12 Health Risk Likely pathogenic Diencephalic-mesencephalic junction dysplasia syndrome 1, Diencephalic-mesencephalic junction dysplasia syndrome 1
RS138987987 HPS3 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 3, HPS3-related disorder
RS1389892619 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS138989655 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS138989954 MASP1 Health Risk Conflicting classifications of pathogenicity 3MC syndrome 1, Ovarian cancer
RS1389903110 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS138990525 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1389908421 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS138991195 LAMP2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS1389916079 CWF19L1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138992047 USH2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138992215 SNRNP200 Health Risk Conflicting classifications of pathogenicity SNRNP200-related disorder, SNRNP200-related disorder
RS138992523 ZNF341 Health Risk Conflicting classifications of pathogenicity Hyper-IgE recurrent infection syndrome 3, autosomal recessive
RS138992849 JPH2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS138992952 ABCA1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1389933015 PCCA Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS138993311 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, Inborn genetic diseases
RS138993523 SPATA7 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 3, Leber congenital amaurosis 3
RS138994150 AGPAT2 Health Risk Pathogenic/Likely pathogenic Congenital generalized lipodystrophy type 1, Malignant tumor of urinary bladder
RS1389944632 COL9A2 Health Risk Pathogenic —
RS1389952796 BSND Health Risk Pathogenic/Likely pathogenic Bartter disease type 4A, Bartter disease type 4A
RS138995556 SCNN1A Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism, type IB1
RS138995566 ABCA12 Health Risk Conflicting classifications of pathogenicity Congenital ichthyosis of skin, Inborn genetic diseases
RS1389959147 CNGB3 Health Risk Pathogenic/Likely pathogenic Achromatopsia 3, Achromatopsia
RS138996609 SDHB Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma
RS138996626 LRP1B Health Risk Conflicting classifications of pathogenicity LRP1B-related disorder, LRP1B-related disorder
RS138996642 USH1C Health Risk Conflicting classifications of pathogenicity Hearing impairment, Hearing impairment
RS1389969543 DEAF1 Health Risk Likely pathogenic —
RS138997091 AGTR1 Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, Renal tubular dysgenesis
RS1389973852 SERPINA1 Health Risk Likely pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS1389984924 OCA2 Health Risk Likely pathogenic Oculocutaneous albinism, Oculocutaneous albinism
RS138998503 UTP4 Health Risk Conflicting classifications of pathogenicity Hereditary North American Indian childhood cirrhosis, UTP4-related disorder
RS138998777 SLC39A13 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, spondylocheirodysplastic type
RS139000082 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Mastocytosis
RS1390003312 CARD14 Health Risk Likely pathogenic Pityriasis rubra pilaris, Psoriasis 2
RS139001173 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS139002130 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS139002197 MOCOS Health Risk Conflicting classifications of pathogenicity Xanthinuria type II, MOCOS-related disorder
RS139002629 PKLR Health Risk Conflicting classifications of pathogenicity —
RS139003032 CLN8 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
RS1390032475 CTNS Health Risk Pathogenic Nephropathic cystinosis, Ocular cystinosis
RS1390034681 LZTR1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1390034820 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
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