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
RS375755924 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS375757102 WWOX Health Risk Pathogenic Developmental and epileptic encephalopathy, 28
RS375757276 INVS Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS375757326 SERAC1 Health Risk Conflicting classifications of pathogenicity 3-methylglutaconic aciduria with deafness, encephalopathy
RS375758486 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS375759781 GJB2 Health Risk Pathogenic Hearing loss, Autosomal recessive nonsyndromic hearing loss 1A
RS375760045 CHRNG Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS375761361 ACO2 Health Risk Conflicting classifications of pathogenicity Infantile cerebellar-retinal degeneration, Infantile cerebellar-retinal degeneration
RS375761808 ARID1A Health Risk Conflicting classifications of pathogenicity 6 conditions, Intellectual disability
RS375762122 ARMC9 Health Risk Likely pathogenic —
RS375762365 C6 Health Risk Pathogenic/Likely pathogenic Complement component 6 deficiency, C6-related disorder
RS375762569 MUSK Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9
RS375762619 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS375764395 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS375764737 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS375767505 OTOA Health Risk Conflicting classifications of pathogenicity —
RS375768747 PDE8B Health Risk Conflicting classifications of pathogenicity Autosomal dominant striatal neurodegeneration type 1, Inborn genetic diseases
RS375770558 CRX Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Cone-rod dystrophy 2
RS375770842 ARL13B Health Risk Conflicting classifications of pathogenicity Joubert syndrome 8, ARL13B-related disorder
RS375772460 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS375773132 GATA2 Health Risk Conflicting classifications of pathogenicity Monocytopenia with susceptibility to infections, Deafness-lymphedema-leukemia syndrome
RS375773222 SLC7A9 Health Risk Conflicting classifications of pathogenicity Cystinuria, Cystinuria
RS375774582 SKIC3 Health Risk Pathogenic —
RS375774640 AMN Health Risk Pathogenic Imerslund-Grasbeck syndrome type 2, Imerslund-Grasbeck syndrome type 2
RS375774931 NEUROD1 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 6, Type 2 diabetes mellitus
RS375775494 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS375775506 MICU1 Health Risk Likely pathogenic —
RS375775541 AGXT Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria, type I
RS375775619 DNAH9 Health Risk Conflicting classifications of pathogenicity Ciliary dyskinesia, primary
RS375776406 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS375776811 TRAPPC4 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with epilepsy, spasticity
RS375777008 TMPRSS15 Health Risk Conflicting classifications of pathogenicity —
RS375777947 IL12RB2 Health Risk Conflicting classifications of pathogenicity —
RS375778014 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS375778172 COL2A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375778719 NHEJ1 Health Risk Conflicting classifications of pathogenicity Cernunnos-XLF deficiency, Inborn genetic diseases
RS375780513 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Joubert syndrome 17
RS375781731 PNKP Health Risk Pathogenic —
RS375781856 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, CDH23-related disorder
RS375782465 ALDH18A1 Health Risk Conflicting classifications of pathogenicity ALDH18A1-related de Barsy syndrome, Cutis laxa
RS375782591 KCNC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375782772 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS375783448 CREB3L3 Health Risk Likely pathogenic —
RS375783686 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS375783941 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS375785084 BCKDHA Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS375785093 GABRG2 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE
RS375785288 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS375785710 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS375786151 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375787099 COL4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies
RS375787249 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Coffin-Siris syndrome
RS375787769 GNPTG Health Risk Conflicting classifications of pathogenicity GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS375788038 LZTR1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS375788413 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS375788435 RDH5 Health Risk Pathogenic/Likely pathogenic Pigmentary retinal dystrophy, Pigmentary retinal dystrophy
RS375788626 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS375788705 ATP7A;PGK1 Health Risk Conflicting classifications of pathogenicity X-linked distal spinal muscular atrophy type 3, Menkes kinky-hair syndrome
RS375789274 DGKZ Health Risk Conflicting classifications of pathogenicity —
RS375789806 CUBN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS375790655 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS375791434 CACNA1F Health Risk Conflicting classifications of pathogenicity —
RS375792737 GFER Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
RS375793430 TRDN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS375794497 TGFB3 Health Risk Conflicting classifications of pathogenicity Rienhoff syndrome, Rienhoff syndrome
RS375795401 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS375795507 PDE6C Health Risk Conflicting classifications of pathogenicity Achromatopsia, Cone dystrophy 4
RS375796317 AGPAT2 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Congenital generalized lipodystrophy type 1
RS375796832 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS375797448 MYH9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, MYH9-related disorder
RS375797722 NANS Health Risk Likely pathogenic —
RS375797728 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS375798002 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Myofibrillar myopathy 4
RS375798246 RBM20 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Dilated cardiomyopathy 1DD
RS375798678 BUB1B Health Risk Conflicting classifications of pathogenicity Mosaic variegated aneuploidy syndrome 1, Inborn genetic diseases
RS375798802 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS375798875 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS375799148 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS375800644 TRAF3IP2 Health Risk Likely pathogenic Candidiasis, familial
RS375800916 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS375801160 TGM5 Health Risk Conflicting classifications of pathogenicity Acral peeling skin syndrome, Acral peeling skin syndrome
RS375801610 CFAP53 Health Risk Pathogenic Heterotaxy, visceral
RS375802248 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS375802288 CHRNE Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome
RS375802354 DVL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375802364 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, KIF7-related disorder
RS375804885 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS375805189 ABCC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375805688 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS375805896 MYO15A Health Risk Conflicting classifications of pathogenicity Ear malformation, Autosomal recessive nonsyndromic hearing loss 3
RS375807410 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, FRAS1-related disorder
RS375807609 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS375808631 PMM2 Health Risk Conflicting classifications of pathogenicity PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS375809563 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS375811228 WDR73 Health Risk Conflicting classifications of pathogenicity Galloway-Mowat syndrome 1, Inborn genetic diseases
RS375811590 CACNA1D Health Risk Conflicting classifications of pathogenicity —
RS375812083 TRPV3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375812492 ACAD8 Health Risk Conflicting classifications of pathogenicity Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase
RS375812718 PIEZO2 Health Risk Conflicting classifications of pathogenicity —
RS375812959 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
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