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
RS761273297 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS761273376 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS761274563 SCN5A Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1E, Long QT syndrome 3
RS761275346 POU1F1 Health Risk Conflicting classifications of pathogenicity Pituitary hormone deficiency, combined
RS761276607 SLC25A46 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary motor and sensory
RS761277865 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS761278503 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS761279421 RORB Health Risk Pathogenic —
RS761281000 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS761281095 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS761282960 ACAT1 Health Risk Pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS761283105 GFM2 Health Risk Conflicting classifications of pathogenicity Mitochondrial disease, Combined oxidative phosphorylation deficiency 39
RS761283836 TRPM1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1C, Congenital stationary night blindness 1C
RS761285440 TECPR2 Health Risk Likely pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS761285505 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2
RS761285716 PTS Health Risk Pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS761286207 RTN2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS761286590 OPA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Optic atrophy
RS761287044 OTOG Health Risk Pathogenic OTOG-related disorder, OTOG-related disorder
RS761288442 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS761288966 VWF Health Risk Likely pathogenic Hereditary von Willebrand disease, Hereditary von Willebrand disease
RS761289479 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS761290075 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Hereditary spastic paraplegia 48
RS761290111 CRX Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS761291501 FANCL Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group L
RS761292021 ALMS1 Health Risk Pathogenic Alstrom syndrome, Retinal dystrophy
RS761292212 CYP11B2 Health Risk Conflicting classifications of pathogenicity Corticosterone methyl oxidase type II deficiency, Corticosterone 18-monooxygenase deficiency
RS761293997 PRF1 Health Risk Conflicting classifications of pathogenicity Lymphoma, non-Hodgkin
RS761294614 WNK4 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2B, Inborn genetic diseases
RS761295502 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761295534 PCCA Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Propionic acidemia
RS761295869 ALDH7A1 Health Risk Likely pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS761296880 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS761298089 TUBB4A Health Risk Conflicting classifications of pathogenicity —
RS761298708 NPHS2 Health Risk Likely pathogenic —
RS761299690 GNPTG Health Risk Conflicting classifications of pathogenicity GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS761299898 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
RS761300463 FHL1 Health Risk Conflicting classifications of pathogenicity X-linked myopathy with postural muscle atrophy, Cardiovascular phenotype
RS761302373 IL12RB1 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Inborn genetic diseases
RS761302882 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS761303232 FLG Health Risk Pathogenic —
RS761304479 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS761308217 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B
RS761308889 TINF2 Health Risk Conflicting classifications of pathogenicity Revesz syndrome, Dyskeratosis congenita
RS761309470 STRADA Health Risk Pathogenic Polyhydramnios, megalencephaly
RS761310644 PRF1 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 2, Lymphoma
RS76131127 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS761312032 SCN1B Health Risk Conflicting classifications of pathogenicity Brugada syndrome 5, Brugada syndrome 5
RS761312129 POLE Health Risk Conflicting classifications of pathogenicity Familial colorectal cancer type X, Polymerase proofreading-related adenomatous polyposis
RS761312526 WDPCP Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Heart defect - tongue hamartoma - polysyndactyly syndrome
RS761312704 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS761313165 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS76131336 NPHS1 Health Risk Conflicting classifications of pathogenicity Congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS761314438 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Inborn genetic diseases
RS761314760 SLX4 Health Risk Pathogenic Fanconi anemia complementation group P, Fanconi anemia complementation group P
RS761317029 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS761317200 MN1 Health Risk Likely pathogenic CEBALID syndrome, MN1 C-terminal truncation (MCTT) syndrome
RS761317813 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS761319100 KCNQ5 Health Risk Conflicting classifications of pathogenicity —
RS761319935 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS761319979 RYR1 Health Risk Conflicting classifications of pathogenicity Central core myopathy, Congenital multicore myopathy with external ophthalmoplegia
RS761320331 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS761320763 WFS1 Health Risk Pathogenic/Likely pathogenic Wolfram syndrome 1, Wolfram-like syndrome
RS761322350 ROBO1 Health Risk Pathogenic/Likely pathogenic —
RS761323769 VPS13C Health Risk Pathogenic —
RS76132393 SETD2 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Congenital portosystemic shunt
RS761324549 AUTS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761325768 HS6ST1 Health Risk risk factor Hypogonadotropic hypogonadism 15 with anosmia, Hypogonadotropic hypogonadism 15 with anosmia
RS761326211 BRAF Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS761327787 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS761328610 CBL Health Risk Conflicting classifications of pathogenicity CBL-related disorder, RASopathy
RS761328915 CPS1 Health Risk Pathogenic/Likely pathogenic Pulmonary hypertension, neonatal
RS761329565 POLE Health Risk Pathogenic Colorectal cancer, susceptibility to
RS761330483 NBAS Health Risk Pathogenic/Likely pathogenic Infantile liver failure, Infantile liver failure
RS761330915 VLDLR Health Risk Likely pathogenic Cerebellar ataxia, intellectual disability
RS761331634 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS761332159 GDAP1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A
RS761332247 GYS1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency
RS761333438 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS761334309 MRPS2 Health Risk Pathogenic Combined oxidative phosphorylation deficiency 36, Combined oxidative phosphorylation deficiency 36
RS761334406 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS761336234 SCN8A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 13
RS761336347 SNRNP200 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS761336394 NAA15 Health Risk Pathogenic —
RS761336580 OPA1 Health Risk Conflicting classifications of pathogenicity —
RS761336987 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS761340026 ABCA12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761341105 CNGA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761341202 FERMT1 Health Risk Pathogenic —
RS761341365 LRIT3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761341366 LRP4 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 17, Cenani-Lenz syndactyly syndrome
RS761341705 DNAH9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761341952 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS761342219 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS761342538 PITPNM3 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 5, Cone-rod dystrophy 5
RS761342764 GPD1 Health Risk Conflicting classifications of pathogenicity GPD1-related disorder, GPD1-related disorder
RS761343107 MRPL44 Health Risk Likely pathogenic Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency, Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
RS761343609 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Neuroblastoma
RS761345398 ACE Health Risk Likely pathogenic —
RS761345476 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
« Prev 1 ... 3378 3379 3380 3381 3382 3383 3384 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →