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
RS1311444460 CYP11B2 Health Risk Conflicting classifications of pathogenicity Corticosterone 18-monooxygenase deficiency, Corticosterone methyloxidase type 2 deficiency
RS1311447368 HOGA1 Health Risk Pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS1311451829 CNGA3 Health Risk Pathogenic/Likely pathogenic Achromatopsia 2, Achromatopsia 2
RS1311474144 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1311482428 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1311529652 LZTR1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1311530268 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1311551510 TMEM237 Health Risk Pathogenic Joubert syndrome 14, Joubert syndrome 14
RS1311592052 NPHP3 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS1311596702 GCK Health Risk Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus, Transient Neonatal Diabetes
RS1311614264 MINPP1 Health Risk Likely pathogenic Pontocerebellar hypoplasia, type 16
RS1311636142 MUSK Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9
RS1311655109 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1311659158 ARG1 Health Risk Likely pathogenic Arginase deficiency, Arginase deficiency
RS1311664031 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS1311664509 WDR37 Health Risk Likely pathogenic Neurooculocardiogenitourinary syndrome, Neurooculocardiogenitourinary syndrome
RS1311681895 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, PALB2-related cancer predisposition
RS1311699085 BBS1 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS1311718055 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1311730265 PHF21A Health Risk Conflicting classifications of pathogenicity —
RS1311737177 TBCD Health Risk Conflicting classifications of pathogenicity Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
RS1311747266 SLC4A11 Health Risk Pathogenic Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy-perceptive deafness syndrome
RS1311804361 PTCH1 Health Risk Pathogenic/Likely pathogenic Gorlin syndrome, Gorlin syndrome
RS1311814991 CFH Health Risk Pathogenic Hemolytic uremic syndrome, atypical
RS1311819000 POPDC3 Health Risk Pathogenic Muscular dystrophy, limb-girdle
RS1311822511 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS1311829327 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1311844326 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1311845746 COMP Health Risk Pathogenic/Likely pathogenic —
RS1311857509 NPR2 Health Risk Pathogenic/Likely pathogenic Acromesomelic dysplasia 1, Maroteaux type
RS1311863343 VAMP1 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1311880928 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS13118928 HHIP Health Risk association Chronic obstructive pulmonary disease, biomass related
RS1311903314 HEXB Health Risk Likely pathogenic Sandhoff disease, Sandhoff disease
RS1311908399 DUOX2 Health Risk Likely pathogenic —
RS1311909367 SNX14 Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 20, Autosomal recessive spinocerebellar ataxia 20
RS1311913891 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS1311916818 TUBGCP6 Health Risk Pathogenic —
RS1311922451 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1311924956 COG4 Health Risk Likely pathogenic COG4-congenital disorder of glycosylation, COG4-congenital disorder of glycosylation
RS1311932817 CD3D Health Risk Pathogenic/Likely pathogenic Immunodeficiency 19, Immunodeficiency 19
RS1311935185 LRP5 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta, 6 conditions
RS1311945646 SLC25A13 Health Risk Likely pathogenic Citrullinemia, type II
RS1311967606 ALOXE3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 2, Lamellar ichthyosis
RS1311980539 MYO3A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30
RS1311982393 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS1311986203 ASXL1 Health Risk Pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS1312002847 CLCN1 Health Risk Pathogenic/Likely pathogenic Congenital myotonia, autosomal dominant form
RS1312009126 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS1312027182 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype
RS1312031160 LCT Health Risk Likely pathogenic Congenital lactase deficiency, Congenital lactase deficiency
RS1312042895 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS1312054803 POU1F1 Health Risk Pathogenic —
RS1312069480 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1312078830 GABRA1 Health Risk Conflicting classifications of pathogenicity GABRA1-related disorder, Inborn genetic diseases
RS1312090680 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A
RS1312117773 MYO15A Health Risk Pathogenic —
RS1312118611 USH1C Health Risk Pathogenic —
RS1312150142 PHKB Health Risk Pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS1312169516 POLR2A Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
RS1312172811 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1312183934 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1312200383 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1312200609 MFSD8 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS1312209529 SLC52A2 Health Risk Pathogenic Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2
RS1312220322 SON Health Risk Conflicting classifications of pathogenicity ZTTK syndrome, ZTTK syndrome
RS1312234258 CFI Health Risk Conflicting classifications of pathogenicity Factor I deficiency, Age related macular degeneration 13
RS1312256471 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS1312261586 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS1312264385 VPS13A Health Risk Pathogenic —
RS1312285586 IFNAR2 Health Risk Pathogenic Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Immunodeficiency 45
RS1312290440 HPS3 Health Risk Pathogenic —
RS1312300020 MMP21 Health Risk Likely pathogenic Heterotaxy, visceral
RS1312320956 ADA Health Risk Pathogenic/Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS1312334046 LZTR1 Health Risk Conflicting classifications of pathogenicity —
RS1312336997 ERCC2 Health Risk Pathogenic —
RS1312347909 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS1312351030 PEX1 Health Risk Pathogenic Zellweger spectrum disorders, Heimler syndrome 1
RS1312358074 PKD1L1 Health Risk Pathogenic —
RS1312374123 MEN1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS1312378621 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1312379259 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS1312379571 MANBA Health Risk Likely pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS1312383000 EVC Health Risk Pathogenic/Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1312396424 SLC25A13 Health Risk Pathogenic/Likely pathogenic Citrin deficiency, Citrullinemia
RS1312402189 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS1312406661 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS1312413528 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1312414434 CYB5R3 Health Risk Pathogenic —
RS1312420010 DST Health Risk Likely pathogenic Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS1312425146 VPS13A Health Risk Likely pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS1312425649 DICER1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
RS1312425985 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1312429867 CACNA1C Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS1312431639 PSMB8 Health Risk Pathogenic Proteosome-associated autoinflammatory syndrome, Proteosome-associated autoinflammatory syndrome
RS1312438512 RARS1 Health Risk Pathogenic —
RS1312477726 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS1312486904 VWF Health Risk Pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS1312494071 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1312504115 USH2A Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
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