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
RS200559187 SPTB Health Risk Likely pathogenic —
RS200559475 NHLRC1 Health Risk Likely pathogenic Lafora disease, Lafora disease
RS200559481 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, NEB-related disorder
RS200559632 PCNT Health Risk Conflicting classifications of pathogenicity PCNT-related disorder, Inborn genetic diseases
RS200559721 CYP11B2 Health Risk Conflicting classifications of pathogenicity Corticosterone 18-monooxygenase deficiency, Corticosterone methyloxidase type 2 deficiency
RS200559722 SP110 Health Risk Pathogenic/Likely pathogenic Hepatic veno-occlusive disease-immunodeficiency syndrome, Hepatic veno-occlusive disease-immunodeficiency syndrome
RS200560090 TENM3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, TENM3-related disorder
RS200560568 NKX2-1 Health Risk Conflicting classifications of pathogenicity Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome
RS200560762 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS200560768 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS200561007 TRAPPC11 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
RS200561053 UNC13A Health Risk Conflicting classifications of pathogenicity UNC13A-related disorder, UNC13A-related disorder
RS200561100 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS200561342 TRPC6 Health Risk Conflicting classifications of pathogenicity —
RS200561489 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS200561616 ITGA6 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS200561798 KIF1B Health Risk Conflicting classifications of pathogenicity Neuroblastoma, Charcot-Marie-Tooth disease type 2
RS200561967 NGLY1 Health Risk Pathogenic/Likely pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation 1
RS200562295 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200562301 FGFR2 Health Risk Conflicting classifications of pathogenicity Crouzon syndrome, Craniosynostosis syndrome
RS200562747 PRDM16 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 8, Left ventricular noncompaction 8
RS200562975 DPYD Health Risk Conflicting classifications of pathogenicity Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS200562991 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS200563280 RYR1 Health Risk Conflicting classifications of pathogenicity Multi-minicore disease and atypical periodic paralysis, Malignant hyperthermia
RS200563480 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS200563529 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Inborn genetic diseases
RS200563930 ABCC8 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Hyperinsulinemic hypoglycemia
RS200564235 TBX15 Health Risk Conflicting classifications of pathogenicity —
RS200564243 COL11A1 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 1, Stickler syndrome type 2
RS200564313 INSR Health Risk Conflicting classifications of pathogenicity Leprechaunism syndrome, Insulin-resistant diabetes mellitus AND acanthosis nigricans
RS200564356 AUH Health Risk Conflicting classifications of pathogenicity 3-methylglutaconic aciduria type 1, Inborn genetic diseases
RS200564629 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS200564757 AAGAB Health Risk Pathogenic Palmoplantar keratoderma, punctate type 1A
RS200564819 RAD51D Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS200565115 FAT4 Health Risk Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2
RS200565348 CTSA Health Risk Pathogenic/Likely pathogenic Abnormality of prenatal development or birth, Combined deficiency of sialidase AND beta galactosidase
RS200565677 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS200565766 TUBG1 Health Risk Conflicting classifications of pathogenicity Complex cortical dysplasia with other brain malformations 4, Complex cortical dysplasia with other brain malformations 4
RS200565814 NEDD4L Health Risk Conflicting classifications of pathogenicity Periventricular nodular heterotopia 7, Intellectual disability
RS200566017 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS200566598 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS200566665 SLC25A46 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary motor and sensory
RS200567066 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, Connective tissue disorder
RS200567140 PLCB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS200567842 DDX41 Health Risk Conflicting classifications of pathogenicity DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases
RS200568241 MUC5B Health Risk Conflicting classifications of pathogenicity —
RS200568460 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS200568477 CTNND1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Blepharocheilodontic syndrome 2
RS200568988 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS200569046 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS200569112 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiovascular phenotype
RS200569294 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Ehlers-Danlos syndrome due to tenascin-X deficiency
RS200569946 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, NPHP4-related disorder
RS200570283 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Inborn genetic diseases
RS200570324 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS200570742 USH2A Health Risk Conflicting classifications of pathogenicity —
RS200571606 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS200571944 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS200572298 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy
RS200572505 ABCA1 Health Risk Conflicting classifications of pathogenicity Hypoalphalipoproteinemia, primary
RS200572531 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS200572803 PKLR Health Risk Conflicting classifications of pathogenicity —
RS200573274 CRB1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS200573434 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis
RS200573476 PCDH12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200574016 GPR143 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200574110 TEK Health Risk Conflicting classifications of pathogenicity Multiple cutaneous and mucosal venous malformations, Inborn genetic diseases
RS200574321 MYO18B Health Risk Conflicting classifications of pathogenicity Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
RS200574441 ODAD2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 23, Primary ciliary dyskinesia
RS200574474 NEBL Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS200574556 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS200574801 MAT1A Health Risk Conflicting classifications of pathogenicity Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency
RS200574919 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS200575096 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Inborn genetic diseases
RS200575318 POP1 Health Risk Likely pathogenic —
RS200575329 KCTD7 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 3, Progressive myoclonic epilepsy type 3
RS200575398 NPAT Health Risk Conflicting classifications of pathogenicity —
RS200575541 ALMS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alstrom syndrome
RS200575914 LEP Health Risk Pathogenic Leptin dysfunction, Obesity due to congenital leptin deficiency
RS200576259 CRTAP Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS200576500 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Inborn genetic diseases
RS200576676 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS200576795 RYR1 Health Risk Likely pathogenic Congenital multicore myopathy with external ophthalmoplegia, Congenital multicore myopathy with external ophthalmoplegia
RS200576852 NDUFAF3 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS200576970 MAG Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 75, Inborn genetic diseases
RS200577201 GFI1 Health Risk Conflicting classifications of pathogenicity Neutropenia, severe congenital
RS200577574 CAD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200577646 PSAP Health Risk Conflicting classifications of pathogenicity Metachromatic leukodystrophy, Sphingolipid activator protein 1 deficiency
RS200577796 TCOF1 Health Risk Conflicting classifications of pathogenicity Treacher Collins syndrome 1, Inborn genetic diseases
RS200577824 BBS1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS200577835 MYLK3 Health Risk Conflicting classifications of pathogenicity —
RS200577967 MMAA Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria, cblA type
RS200579008 RAB3GAP2 Health Risk Conflicting classifications of pathogenicity Martsolf syndrome, Warburg micro syndrome 2
RS200579436 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, MAN2B1-related disorder
RS200579660 HNF1B Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Type 2 diabetes mellitus
RS200580325 MITF Health Risk Conflicting classifications of pathogenicity Melanoma, cutaneous malignant
RS200580340 IL11RA Health Risk Conflicting classifications of pathogenicity Craniosynostosis syndrome, Craniosynostosis syndrome
RS200580391 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Deafness
RS200580597 LDB3 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1C, Myofibrillar myopathy 4
RS200580615 DNAAF11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 19, Primary ciliary dyskinesia 19
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