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
RS1385660445 NTHL1 Health Risk Pathogenic —
RS138567316 MYL3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS138567364 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1385675650 ADSL Health Risk Conflicting classifications of pathogenicity Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS138567837 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1385678413 CYP7B1 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 5A, Spastic paraplegia
RS1385679012 ZEB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Mowat-Wilson syndrome
RS138568018 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, Inborn genetic diseases
RS1385688129 EXT1 Health Risk Conflicting classifications of pathogenicity Multiple congenital exostosis, Multiple congenital exostosis
RS1385691888 LZTR1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS138569287 COL3A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS138570309 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1385712943 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS138571855 MGAM Health Risk Conflicting classifications of pathogenicity —
RS138571942 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Charcot-Marie-Tooth disease axonal type 2O
RS1385720097 CDH1 Health Risk Pathogenic/Likely pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS138572086 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS138572161 CDH15 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Intellectual disability
RS1385727683 SLC26A4 Health Risk Pathogenic —
RS138574046 TGM1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS1385741705 TCIRG1 Health Risk Likely pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS138574386 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Usher syndrome type 2A
RS138574949 GSS Health Risk Conflicting classifications of pathogenicity Inherited glutathione synthetase deficiency, Inborn genetic diseases
RS138575228 SMARCAL1 Health Risk Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS138575554 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS1385756157 GATA6 Health Risk Conflicting classifications of pathogenicity Atrioventricular septal defect 5, Conotruncal heart malformations
RS138576504 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1385766471 KMT2B Health Risk Likely pathogenic —
RS138576725 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS138577419 AK2 Health Risk Conflicting classifications of pathogenicity Reticular dysgenesis, AK2-related disorder
RS138577661 GALC Health Risk Pathogenic/Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1385781565 CIT Health Risk Likely pathogenic —
RS138578359 GCH1 Health Risk Conflicting classifications of pathogenicity GTP cyclohydrolase I deficiency, Dystonia 5
RS1385789921 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Inborn genetic diseases
RS138579421 CARD14 Health Risk Conflicting classifications of pathogenicity Psoriasis 2, Pityriasis rubra pilaris
RS1385794215 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS138579810 LAMA4 Health Risk Conflicting classifications of pathogenicity —
RS1385799739 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS138580420 ATP2B4 Health Risk Conflicting classifications of pathogenicity ATP2B4-related disorder, ATP2B4-related disorder
RS138581191 CLN8 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Inborn genetic diseases
RS1385817640 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS138582560 HARS1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 3B, Usher syndrome type 3B
RS1385829693 USH2A Health Risk Conflicting classifications of pathogenicity —
RS1385831038 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS1385831846 CDH23 Health Risk Pathogenic/Likely pathogenic Usher syndrome, Pituitary adenoma 5
RS138583401 HSPG2 Health Risk Conflicting classifications of pathogenicity Lymphoma, Lymphoma
RS138583508 COL9A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, COL9A1-related disorder
RS138584071 ALG9 Health Risk Conflicting classifications of pathogenicity ALG9 congenital disorder of glycosylation, Gillessen-Kaesbach-Nishimura syndrome
RS138584384 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS138584408 AGXT Health Risk Pathogenic/Likely pathogenic Primary hyperoxaluria, type I
RS1385850128 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS138585275 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, familial
RS138585463 SZT2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 18
RS138585919 AIPL1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Leber congenital amaurosis 4
RS138586345 TUBGCP6 Health Risk Conflicting classifications of pathogenicity Microcephaly and chorioretinopathy 1, Microcephaly and chorioretinopathy 1
RS138586787 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
RS138587317 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, Inborn genetic diseases
RS1385873554 BBS7 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS138587718 ARSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 6, ARSB-related disorder
RS1385878017 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS138588008 PTCH2 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Basal cell carcinoma
RS1385882031 SHANK3 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS138588403 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1385885533 FANCI Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group I
RS138588916 CDK5RAP2 Health Risk Pathogenic —
RS138588942 ODAD2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 23, Primary ciliary dyskinesia
RS1385890053 LAMP2 Health Risk Pathogenic Danon disease, Danon disease
RS138589242 LRP4 Health Risk Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome, Sclerosteosis 2
RS138589984 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1385902057 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS138590256 USH1G Health Risk Conflicting classifications of pathogenicity USH1G-related disorder, USH1G-related disorder
RS1385904344 PRX Health Risk Pathogenic Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4F
RS138590764 SIM1 Health Risk Conflicting classifications of pathogenicity Obesity due to SIM1 deficiency, Obesity due to SIM1 deficiency
RS138592420 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1385926024 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS138592977 LMNA Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Charcot-Marie-Tooth disease
RS138593211 MYO3A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30
RS138593305 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS138593495 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS1385935333 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1385935677 GNPTG Health Risk Likely pathogenic GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS138593705 JAK3 Health Risk Conflicting classifications of pathogenicity T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS138594222 ATAD3A Health Risk Conflicting classifications of pathogenicity Harel-Yoon syndrome, Pontocerebellar hypoplasia
RS1385943891 EXOSC9 Health Risk Pathogenic —
RS138594808 ABRAXAS1 Health Risk Conflicting classifications of pathogenicity —
RS138595686 MEN1 Health Risk Conflicting classifications of pathogenicity Hyperparathyroidism, Multiple endocrine neoplasia
RS1385959174 KCNH2 Health Risk Pathogenic Cardiovascular phenotype, Long QT syndrome 2
RS138596278 DNMT3B Health Risk Conflicting classifications of pathogenicity Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency
RS138596741 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cardiovascular phenotype
RS138597671 KRT81 Health Risk Conflicting classifications of pathogenicity Monilethrix, Monilethrix-1
RS138598422 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS1385985785 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS138599605 FCGR2A Health Risk Conflicting classifications of pathogenicity —
RS138599871 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS138601241 AAGAB Health Risk Conflicting classifications of pathogenicity Palmoplantar keratoderma, punctate type 1A
RS138601260 PRPF6 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1386014501 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS138603088 SAMHD1 Health Risk Pathogenic/Likely pathogenic Chilblain lupus 2, Aicardi-Goutieres syndrome 5
RS1386031101 MLH1 Health Risk Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Mismatch repair cancer syndrome 1
RS138604469 SALL4 Health Risk Conflicting classifications of pathogenicity Duane-radial ray syndrome, Duane-radial ray syndrome
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