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
RS779714510 TTC21B Health Risk Pathogenic Jeune thoracic dystrophy, Nephronophthisis
RS779715252 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS779715512 TRPV4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2C, 11 conditions
RS779716464 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS779716535 FRRS1L Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 37
RS779716706 IGHMBP2 Health Risk Pathogenic Distal spinal muscular atrophy, Autosomal recessive distal spinal muscular atrophy 1
RS779718362 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS779718367 PDE6C Health Risk Likely pathogenic —
RS779719517 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS779719772 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS77972073 PDE11A Health Risk Conflicting classifications of pathogenicity —
RS779721240 DDX3X Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779721863 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS779722086 SKIC2 Health Risk Pathogenic —
RS779722414 OPA1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant optic atrophy classic form, Autosomal dominant optic atrophy classic form
RS779723153 RYR1 Health Risk Pathogenic/Likely pathogenic RYR1-related disorder, Congenital multicore myopathy with external ophthalmoplegia
RS779723422 C7 Health Risk Likely pathogenic Complement component 7 deficiency, Complement component 7 deficiency
RS779723501 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS779724136 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS779724665 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS779726809 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS779727341 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS779727632 SLC6A19 Health Risk Conflicting classifications of pathogenicity Neutral 1 amino acid transport defect, Neutral 1 amino acid transport defect
RS779728141 SACS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spastic paraplegia
RS779729016 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS779729198 KBTBD13 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 6, Inborn genetic diseases
RS779729881 TCTN3 Health Risk Pathogenic/Likely pathogenic Orofacial-digital syndrome IV, Joubert syndrome 18
RS779730090 CYP1B1 Health Risk Pathogenic Primary congenital glaucoma, Anterior segment dysgenesis 6
RS77973158 KIDINS220 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, intellectual disability
RS779731596 EIF2AK3 Health Risk Conflicting classifications of pathogenicity Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia
RS779732323 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS779732414 ACOX1 Health Risk Likely pathogenic Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
RS779733514 TBX3 Health Risk Pathogenic Ulnar-mammary syndrome, Ulnar-mammary syndrome
RS779733584 TTN Health Risk Conflicting classifications of pathogenicity —
RS779733902 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS779734725 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS779736415 ABCC2 Health Risk Conflicting classifications of pathogenicity Dubin-Johnson syndrome, Dubin-Johnson syndrome
RS779736828 ABCC8 Health Risk Pathogenic Permanent neonatal diabetes mellitus, Diabetes mellitus
RS779737221 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS779737534 FBXO7 Health Risk Pathogenic Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome
RS77973802 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, NPHP4-related disorder
RS779739159 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS779739318 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS779739455 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS779740894 TTLL5 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS779741278 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS779743222 ABCA4 Health Risk Pathogenic Stargardt disease, Retinal dystrophy
RS779744636 TRAPPC9 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 13
RS779745348 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, Polycystic kidney disease
RS779745863 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS779746050 VPS13A Health Risk Pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS779746222 BLM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Bloom syndrome
RS779747435 KCNJ1 Health Risk Pathogenic Bartter syndrome, Bartter syndrome
RS779748438 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS779748579 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS779748858 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS779748859 COL4A6 Health Risk Likely pathogenic Hearing loss, X-linked 6
RS779749104 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS779749654 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1G
RS779751590 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS779751728 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS779751914 TNXB Health Risk Pathogenic TNXB-related disorder, Cardiovascular phenotype
RS779754977 CPLANE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS77975504 TRPV4 Health Risk Pathogenic/Likely pathogenic Spondylometaphyseal dysplasia, Kozlowski type
RS779755261 GATA6 Health Risk Conflicting classifications of pathogenicity Atrioventricular septal defect 5, Inborn genetic diseases
RS779755743 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS779756082 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779756580 GSN Health Risk Conflicting classifications of pathogenicity Finnish type amyloidosis, Finnish type amyloidosis
RS779756862 BIN1 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear
RS779757251 NTHL1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3
RS779757789 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS779758367 DHTKD1 Health Risk Conflicting classifications of pathogenicity 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS779758622 ACAT1 Health Risk Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS779759134 SPTAN1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS779759347 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS779759678 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS779760381 SLC2A5 Health Risk association Long QT syndrome, Long QT syndrome
RS779760634 WHRN Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 31, Usher syndrome type 2D
RS779761818 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS779762183 IDUA Health Risk Pathogenic/Likely pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS779764549 NBEA Health Risk Likely pathogenic Neurodevelopmental disorder with or without early-onset generalized epilepsy, Neurodevelopmental disorder with or without early-onset generalized epilepsy
RS779765020 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS779765084 NPHS2 Health Risk Likely pathogenic Nephrotic syndrome, type 2
RS779767483 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS779767507 ST3GAL5 Health Risk Pathogenic GM3 synthase deficiency, GM3 synthase deficiency
RS779768114 LRP6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779769077 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation
RS779769475 SMARCB1 Health Risk Pathogenic/Likely pathogenic SMARCB1-related schwannomatosis, Hereditary cancer-predisposing syndrome
RS779769525 MAN2B1 Health Risk Pathogenic/Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS779770406 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS779770451 PRRT2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Episodic kinesigenic dyskinesia
RS779770514 FRAS1 Health Risk Pathogenic —
RS779770765 RASA1 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation syndrome, Cardiovascular phenotype
RS779772252 PIEZO1 Health Risk Conflicting classifications of pathogenicity PIEZO1-related disorder, PIEZO1-related disorder
RS779773463 XRCC4 Health Risk Pathogenic/Likely pathogenic Short stature, microcephaly
RS779773957 SMC3 Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 3, Inborn genetic diseases
RS779774302 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS779774732 OBSCN Health Risk Conflicting classifications of pathogenicity —
RS779775183 OAS1 Health Risk Conflicting classifications of pathogenicity —
RS779776455 APOB Health Risk Pathogenic Familial hypercholesterolemia, Hypercholesterolemia
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