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
RS201048030 EVC2 Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS201048693 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS201049092 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS201049603 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS201050033 ZNF335 Health Risk Conflicting classifications of pathogenicity ZNF335-related disorder, ZNF335-related disorder
RS201050276 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS201050851 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS201050937 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1
RS201051252 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10
RS201051426 FAH Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, FAH-related disorder
RS201051533 TRPC6 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 2, Focal segmental glomerulosclerosis 2
RS201052151 AGK Health Risk Conflicting classifications of pathogenicity Cataract 38, Sengers syndrome
RS201052196 COL1A2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS201052251 TNFAIP3 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, familial
RS201052754 L1CAM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spastic paraplegia
RS201052958 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS201053044 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS201053045 PLIN4 Health Risk Conflicting classifications of pathogenicity —
RS201053334 PCLO Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201053542 EPM2A Health Risk Pathogenic/Likely pathogenic Progressive myoclonic epilepsy, Lafora disease
RS201053795 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS201053854 WDR62 Health Risk Conflicting classifications of pathogenicity Microcephaly 2, primary
RS201053898 AMER1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Osteopathia striata with cranial sclerosis
RS201054018 TGFBR1 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 1, Acute myeloid leukemia
RS201054106 ERCC3 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum group B, Xeroderma pigmentosum
RS201054429 COL11A2 Health Risk Conflicting classifications of pathogenicity Otospondylomegaepiphyseal dysplasia, autosomal recessive
RS201054437 FSCN2 Health Risk Conflicting classifications of pathogenicity —
RS201054659 ANLN Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 8, Focal segmental glomerulosclerosis 8
RS201054854 COL9A2 Health Risk Conflicting classifications of pathogenicity Epiphyseal dysplasia, multiple
RS201054877 FGFR1 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with or without anosmia, Osteoglophonic dysplasia
RS201054979 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, EP300-related disorder
RS201055347 SI Health Risk Pathogenic/Likely pathogenic SI-related disorder, Sucrase-isomaltase deficiency
RS201055917 ITGA6 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Epidermolysis bullosa
RS201056676 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Inborn genetic diseases
RS201056702 EIF2AK4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201056799 FLCN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS201056930 CTNNA1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS201056962 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS201056963 ANKRD1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS201057172 COL18A1 Health Risk Conflicting classifications of pathogenicity Knobloch syndrome, Knobloch syndrome
RS201057205 TNRC6B Health Risk Conflicting classifications of pathogenicity Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities
RS201057307 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy
RS201057526 MAGI2 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome 15, Nephrotic syndrome 15
RS201057562 HCN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201057681 CDAN1 Health Risk Conflicting classifications of pathogenicity Anemia, congenital dyserythropoietic
RS201057718 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, X-linked hydrocephalus syndrome
RS201058019 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS201058100 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS201058200 CTNS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Ocular cystinosis
RS201058219 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS201058248 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS201058656 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS201058867 COL4A2 Health Risk Conflicting classifications of pathogenicity Optic nerve hypoplasia, See cases
RS201059449 SP110 Health Risk Conflicting classifications of pathogenicity Hepatic veno-occlusive disease-immunodeficiency syndrome, Hepatic veno-occlusive disease-immunodeficiency syndrome
RS201059509 CLCN3 Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental disorder with hypotonia and brain abnormalities
RS201059532 LRBA Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS201059622 DNAAF5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 18, Primary ciliary dyskinesia
RS201059645 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, ABCA4-related disorder
RS201059765 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS201060167 IGHMBP2 Health Risk Pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS201060702 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, LOXHD1-related disorder
RS201060968 ABCA7 Health Risk Conflicting classifications of pathogenicity Alzheimer disease 9, Alzheimer disease 9
RS201061067 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS201061231 SBF1 Health Risk Conflicting classifications of pathogenicity —
RS201061482 TNNI3K Health Risk Conflicting classifications of pathogenicity Atrial conduction disease, Atrial conduction disease
RS201061916 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS201062001 TNFRSF1A Health Risk Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS), Autoinflammatory syndrome
RS201062148 TRPV3 Health Risk Conflicting classifications of pathogenicity Isolated focal non-epidermolytic palmoplantar keratoderma, Isolated focal non-epidermolytic palmoplantar keratoderma
RS201062488 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS201062642 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS201062811 SLC12A6 Health Risk Conflicting classifications of pathogenicity Agenesis of the corpus callosum with peripheral neuropathy, Inborn genetic diseases
RS201062903 ALAS2 Health Risk Conflicting classifications of pathogenicity X-linked sideroblastic anemia 1, X-linked erythropoietic protoporphyria
RS201063220 COMP Health Risk Conflicting classifications of pathogenicity Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1
RS201063437 BRD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201063698 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS201063733 BBS2 Health Risk Pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome
RS201063854 DCTN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Amyotrophic lateral sclerosis type 1
RS201064212 ROR2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Robinow syndrome, Brachydactyly type B1
RS201064551 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram-like syndrome, Cataract 41
RS201064656 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, KBG syndrome
RS201064853 MTPAP Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Acute myeloid leukemia
RS201065037 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS201065226 CPT2 Health Risk Pathogenic/Likely pathogenic Carnitine palmitoyl transferase II deficiency, myopathic form
RS201065230 NPHP4 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 4, Nephronophthisis 4
RS201065518 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS201065561 DOCK6 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 2, DOCK6-related disorder
RS201065562 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS201065802 AEBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201066018 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Infantile cortical hyperostosis
RS201066079 LAMA5 Health Risk Conflicting classifications of pathogenicity LAMA5-related disorder, Inborn genetic diseases
RS201066183 SELENON Health Risk Conflicting classifications of pathogenicity Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS201066442 SOX6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201066635 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal dominant polycystic liver disease
RS201067043 PRRC2B Health Risk Conflicting classifications of pathogenicity —
RS201067092 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Inborn genetic diseases
RS201067137 DNMT3B Health Risk Conflicting classifications of pathogenicity Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Centromeric instability of chromosomes 1
RS201067154 EPG5 Health Risk Conflicting classifications of pathogenicity Vici syndrome, EPG5-related disorder
RS201067368 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS201067731 TRIP12 Health Risk Conflicting classifications of pathogenicity Clark-Baraitser syndrome, Inborn genetic diseases
RS201067821 MYO15A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, MYO15A-related disorder
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