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
RS1238448278 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS1238451790 PEX12 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger)
RS1238452758 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1238458888 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1238459356 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS1238471583 TUBGCP6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1238472629 PMM2 Health Risk Pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS1238479593 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related myopathy
RS1238492400 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS1238498783 RTEL1 Health Risk Pathogenic/Likely pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS1238508616 WDR11 Health Risk Pathogenic —
RS1238520484 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS1238539931 BRAT1 Health Risk Pathogenic Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures
RS1238543321 SLC12A3 Health Risk Pathogenic —
RS1238547215 TTC8 Health Risk Likely pathogenic Retinitis pigmentosa 51, Retinitis pigmentosa 51
RS1238551111 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1238562877 LYST Health Risk Pathogenic/Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS1238566593 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1238606214 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1238612161 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1238614630 MRE11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1238632042 BBS5 Health Risk Likely pathogenic Cone dystrophy, BBS5-related disorder
RS1238638659 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS1238684043 HCN4 Health Risk Likely pathogenic Brugada syndrome 8, Brugada syndrome 8
RS1238687077 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, Inborn genetic diseases
RS1238694184 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia
RS1238711555 PCARE Health Risk Likely pathogenic Retinitis pigmentosa 54, Retinitis pigmentosa 54
RS1238713514 NBAS Health Risk Likely pathogenic —
RS1238718850 AP3B2 Health Risk Likely pathogenic —
RS1238779318 GRIN2A Health Risk Likely pathogenic Self-limited epilepsy with centrotemporal spikes, Landau-Kleffner syndrome
RS1238782647 VPS13A Health Risk Pathogenic —
RS1238784071 CACNA1E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1238816267 ABCA1 Health Risk Pathogenic —
RS1238821346 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1238832404 IFIH1 Health Risk Pathogenic Aicardi-Goutieres syndrome 7, Aicardi-Goutieres syndrome 7
RS1238856355 LAMC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1238870745 FBXL4 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS1238884216 GPI Health Risk Pathogenic/Likely pathogenic Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
RS1238887554 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1238901632 CPT2 Health Risk Pathogenic/Likely pathogenic Carnitine palmitoyltransferase II deficiency, Encephalopathy
RS1238907068 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS1238910577 IMPDH1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1238918084 AMT Health Risk Likely pathogenic Glycine encephalopathy 1, Glycine encephalopathy 1
RS1238921380 IMPDH1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1238925545 FANCE Health Risk Pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS1238929596 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1238945219 RPGR Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1238997365 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis 2
RS1239008031 SLC7A7 Health Risk Conflicting classifications of pathogenicity Lysinuric protein intolerance, Lysinuric protein intolerance
RS1239012334 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1239013578 NDUFB8 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 32
RS1239018406 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1239029841 PKLR Health Risk Likely pathogenic —
RS1239043055 RDH12 Health Risk Likely pathogenic Leber congenital amaurosis 13, Retinitis pigmentosa
RS1239045609 SCAPER Health Risk Likely pathogenic SCAPER-related disorder, SCAPER-related disorder
RS1239073737 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1239076295 KMT2B Health Risk Pathogenic/Likely pathogenic —
RS1239081703 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS1239093704 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS1239101618 HEXA Health Risk Pathogenic/Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS1239116046 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1239148255 VPS13A Health Risk Likely pathogenic —
RS1239154521 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS1239178537 COL18A1 Health Risk Likely pathogenic —
RS1239200181 TBCE Health Risk Likely pathogenic —
RS1239223809 EXOSC9 Health Risk Likely pathogenic —
RS1239225665 TPO Health Risk Pathogenic/Likely pathogenic Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS12392549 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS1239277010 HADH Health Risk Pathogenic Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Deficiency of 3-hydroxyacyl-CoA dehydrogenase
RS1239294172 HSPG2 Health Risk Likely pathogenic Schwartz-Jampel syndrome type 1, Schwartz-Jampel syndrome type 1
RS1239327109 PYCR1 Health Risk Likely pathogenic Wiedemann-Rautenstrauch-like progeroid syndrome, PYCR1-related disorder
RS1239341211 HARS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Charcot-Marie-Tooth disease type 2W, Usher syndrome type 3B
RS1239346965 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1239348737 SPEF2 Health Risk Likely pathogenic SPEF2-related disorder, SPEF2-related disorder
RS1239354393 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1239366051 B3GALT6 Health Risk Likely pathogenic Spondyloepiphyseal dysplasia, Spondyloepiphyseal dysplasia
RS1239393228 CHRNB1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 2A
RS1239410431 SAMHD1 Health Risk Pathogenic —
RS1239424185 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1239450803 PRRT2 Health Risk Pathogenic/Likely pathogenic Episodic kinesigenic dyskinesia, Seizures
RS1239460949 PIK3R2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
RS1239466041 SLC6A8 Health Risk Pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS1239494313 ARX Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS1239498701 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1239508295 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1239532436 STXBP1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 4
RS1239560651 NRROS Health Risk Likely pathogenic NRROS-related disorder, NRROS-related disorder
RS12395634 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS1239601514 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Hereditary spastic paraplegia
RS1239601972 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1239621485 HPS1 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome
RS1239628575 DGAT1 Health Risk Likely pathogenic —
RS1239645507 HSD17B4 Health Risk Conflicting classifications of pathogenicity Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1
RS1239655205 LAMA3 Health Risk Pathogenic —
RS1239666726 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1239693053 TH Health Risk Conflicting classifications of pathogenicity Autosomal recessive DOPA responsive dystonia, TH-related disorder
RS1239695899 CFH Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 4, Age related macular degeneration 4
RS1239699760 LZTR1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1239720346 SETD1B Health Risk Pathogenic —
RS1239720687 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
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