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
RS1429153517 NGLY1 Health Risk Conflicting classifications of pathogenicity Congenital disorder of deglycosylation, Congenital disorder of deglycosylation 1
RS142915569 CD3G Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to CD3gamma deficiency, CD3G-related disorder
RS142916171 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS142916824 POMT2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2N, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS1429171505 SCN10A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome
RS142917412 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS142917604 ZFP57 Health Risk Conflicting classifications of pathogenicity Diabetes mellitus, transient neonatal
RS142917638 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS142917664 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS1429181185 CHRNE Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS1429181351 GNPTAB Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Pseudo-Hurler polydystrophy
RS142919010 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS142919353 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1429197938 GABRA1 Health Risk Likely pathogenic Epileptic encephalopathy, Epileptic encephalopathy
RS142920070 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Inborn genetic diseases
RS142920240 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS142920998 LDLRAP1 Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS1429220590 SETD2 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Inborn genetic diseases
RS142922408 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS1429229564 SLC25A20 Health Risk Likely pathogenic Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS1429234959 CHD2 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder, Inborn genetic diseases
RS1429239930 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS142925511 DVL1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Robinow syndrome 1, Inborn genetic diseases
RS142926244 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS142926399 ROR2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Robinow syndrome, Brachydactyly type B1
RS1429264347 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS142926499 AKT2 Health Risk Conflicting classifications of pathogenicity Hypoinsulinemic hypoglycemia and body hemihypertrophy, Type 2 diabetes mellitus
RS142927608 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS142928983 SPRED1 Health Risk Conflicting classifications of pathogenicity Legius syndrome, Legius syndrome
RS142929172 RYR1 Health Risk Likely pathogenic RYR1-related disorder, Malignant hyperthermia
RS142929745 COL4A5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142930935 NECTIN1 Health Risk Conflicting classifications of pathogenicity Cleft lip/palate-ectodermal dysplasia syndrome, Cleft lip/palate-ectodermal dysplasia syndrome
RS142931246 OCA2 Health Risk Conflicting classifications of pathogenicity Albinism, Tyrosinase-positive oculocutaneous albinism
RS142931455 LOXHD1 Health Risk Conflicting classifications of pathogenicity LOXHD1-related disorder, Autosomal recessive nonsyndromic hearing loss 77
RS1429329309 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS142932960 RPUSD3 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS142934146 KYNU Health Risk Pathogenic Catel-Manzke syndrome, Vertebral
RS142934543 LAMA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
RS142934642 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS142934776 KDM6B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
RS142934882 HPS1 Health Risk Conflicting classifications of pathogenicity HPS1-related disorder, Inborn genetic diseases
RS142934950 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS1429353441 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1429360126 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Inborn genetic diseases
RS1429361753 HERC2 Health Risk Conflicting classifications of pathogenicity See cases, Inborn genetic diseases
RS142936491 ERCC2 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group D
RS1429375125 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS1429377869 SCN8A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS142937879 ADAMTS3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142937931 CFH Health Risk Conflicting classifications of pathogenicity CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Age related macular degeneration 4
RS1429379858 ATP13A2 Health Risk Likely pathogenic Kufor-Rakeb syndrome, Kufor-Rakeb syndrome
RS142937995 FGB Health Risk Conflicting classifications of pathogenicity Congenital afibrinogenemia, Congenital afibrinogenemia
RS142938239 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS142938290 AP3B1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, AP3B1-related disorder
RS1429385936 ADGRV1 Health Risk Pathogenic —
RS142938748 TTC8 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 8, Bardet-Biedl syndrome
RS142938848 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS142939330 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS142941035 NHLRC1 Health Risk Conflicting classifications of pathogenicity Lafora disease, Inborn genetic diseases
RS142941257 PTPRC Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, PTPRC-related disorder
RS1429417228 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS142943120 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS142943213 CYP26C1 Health Risk Conflicting classifications of pathogenicity CYP26C1-related disorder, CYP26C1-related disorder
RS1429436465 RAD51C Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1429442821 TMPRSS3 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8
RS142944337 CYP2U1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS1429451823 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1429462039 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1429464723 FKTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS142946646 TRPM6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142947311 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast carcinoma
RS1429474154 FRMD7 Health Risk Pathogenic/Likely pathogenic Nystagmus 1, congenital
RS142947482 MEGF10 Health Risk Conflicting classifications of pathogenicity MEGF10-related myopathy, MEGF10-related myopathy
RS142948482 UGT2B15 Health Risk Conflicting classifications of pathogenicity —
RS142948530 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21
RS142949009 F2 Health Risk Conflicting classifications of pathogenicity Congenital prothrombin deficiency, Thrombophilia due to thrombin defect
RS1429490877 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1429492147 PTPN11 Health Risk Conflicting classifications of pathogenicity RASopathy, Noonan syndrome 1
RS142949377 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1429500736 CREBBP Health Risk Conflicting classifications of pathogenicity —
RS142951029 CALR3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 19, Arrhythmogenic right ventricular cardiomyopathy
RS142951316 PDLIM3 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy
RS142951505 TTN Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Myopathy
RS142951578 NCOA3 Health Risk Pathogenic Bilateral sensorineural hearing impairment, Bilateral sensorineural hearing impairment
RS1429521079 RYR1 Health Risk Likely pathogenic Abnormality of the musculature, Abnormality of the musculature
RS142952627 F11 Health Risk Pathogenic —
RS142952813 GCK Health Risk Pathogenic Maturity-onset diabetes of the young type 2, Type 2 diabetes mellitus
RS1429535306 DYNC1H1 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS142954164 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS1429544702 SMC5 Health Risk Pathogenic Atelis syndrome 2, Atelis syndrome 2
RS142954613 CPT1A Health Risk Pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS1429546236 FA2H Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Hereditary spastic paraplegia 35
RS1429562386 SLC26A2 Health Risk Pathogenic/Likely pathogenic Achondrogenesis, type IB
RS142956369 SLC7A7 Health Risk Conflicting classifications of pathogenicity Lysinuric protein intolerance, Inborn genetic diseases
RS142957638 LIG4 Health Risk Conflicting classifications of pathogenicity DNA ligase IV deficiency, LIG4-related disorder
RS142957871 ALDOA Health Risk Conflicting classifications of pathogenicity HNSHA due to aldolase A deficiency, ALDOA-related disorder
RS1429579718 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Inborn genetic diseases
RS142958800 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS1429589119 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS142959373 FANCB Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group B, VACTERL association
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