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
RS771765849 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases
RS771766431 CDH23 Health Risk Pathogenic/Likely pathogenic Hearing loss, autosomal recessive
RS771767698 BRWD3 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 93
RS771767745 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS771768635 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS771770547 FRAS1 Health Risk Pathogenic/Likely pathogenic Fraser syndrome 1, Fraser syndrome 1
RS771771077 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS771771163 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS771772104 CHEK2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS771772546 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Autism
RS771772555 ATP2A1 Health Risk Conflicting classifications of pathogenicity Brody myopathy, Inborn genetic diseases
RS771773845 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy
RS771775245 INF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS771775516 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS771776126 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS771777424 MAG Health Risk Pathogenic Hereditary spastic paraplegia 75, Hereditary spastic paraplegia 75
RS771777653 C1QTNF5;MFRP Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 5, Late-onset retinal degeneration
RS771777757 MTFMT Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771779312 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS771780422 DNAH9 Health Risk Likely pathogenic DNAH9-related disorder, Ciliary dyskinesia
RS771780488 KANSL1 Health Risk Likely pathogenic Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS771780974 HSD17B4 Health Risk Conflicting classifications of pathogenicity Perrault syndrome, Bifunctional peroxisomal enzyme deficiency
RS771781357 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS771781694 ERCC6 Health Risk Pathogenic Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME
RS771781756 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS771783234 CHD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771784041 PPOX Health Risk Pathogenic —
RS771784652 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS771784900 HFE Health Risk Pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS771785420 GAN Health Risk Likely pathogenic Giant axonal neuropathy 1, Giant axonal neuropathy 1
RS771786550 POLR3A Health Risk Likely pathogenic Leukodystrophy, hypomyelinating
RS771787085 SBF2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease type 4
RS771787305 GUCY2C Health Risk Conflicting classifications of pathogenicity Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency, Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
RS771787499 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS771788391 CLN3 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis
RS771789585 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS771789692 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS771790015 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS771790456 AIRE Health Risk Conflicting classifications of pathogenicity Polyglandular autoimmune syndrome, type 1
RS771790639 CARD11 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease
RS771791383 C5 Health Risk Conflicting classifications of pathogenicity —
RS771791598 COL3A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, type 4
RS771792080 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS771792572 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS771792933 C6 Health Risk Pathogenic/Likely pathogenic Complement component 6 deficiency, Complement component 6 deficiency
RS771793540 CTCF Health Risk Likely pathogenic —
RS771793763 ROGDI Health Risk Conflicting classifications of pathogenicity Amelocerebrohypohidrotic syndrome, Amelocerebrohypohidrotic syndrome
RS771793862 FKRP Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype
RS771794639 ASS1 Health Risk Likely pathogenic Citrullinemia type I, Citrullinemia
RS771796347 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Inborn genetic diseases
RS771796518 CHRNG Health Risk Pathogenic —
RS771796683 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS771797450 C2 Health Risk Conflicting classifications of pathogenicity Complement component 2 deficiency, Age related macular degeneration 14
RS771798085 PLCE1 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 3
RS77179853 HOXB13 Health Risk Conflicting classifications of pathogenicity; association Hereditary cancer-predisposing syndrome, HOXB13-related disorder
RS771799491 SLC2A2 Health Risk Likely pathogenic SLC2A2-related disorder, SLC2A2-related disorder
RS771801125 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS771801197 WNK1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS771801398 RARS2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Cervical cancer
RS771802286 ABCG5 Health Risk Conflicting classifications of pathogenicity Sitosterolemia 1, Sitosterolemia
RS771802296 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS771803281 DMD Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Dilated cardiomyopathy 3B
RS771803576 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS771803651 NOTCH3 Health Risk Conflicting classifications of pathogenicity Myofibromatosis, infantile
RS771803841 RAI1 Health Risk Pathogenic Smith-Magenis syndrome, Smith-Magenis syndrome
RS771803942 EXT2 Health Risk Conflicting classifications of pathogenicity Exostoses, multiple
RS771803950 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS771804551 RELN Health Risk Conflicting classifications of pathogenicity Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS771806027 CHD7 Health Risk Pathogenic CHARGE syndrome, Inborn genetic diseases
RS771806960 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS771807324 TCF3 Health Risk Pathogenic —
RS771807792 FAM20A Health Risk Conflicting classifications of pathogenicity Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G
RS771808028 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS771808127 AARS2 Health Risk Pathogenic —
RS771808680 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS771809673 RXYLT1 Health Risk Pathogenic —
RS771809901 GFER Health Risk Conflicting classifications of pathogenicity Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome, Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
RS771810111 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS771810132 EIF2B5 Health Risk Conflicting classifications of pathogenicity Vanishing white matter disease, Vanishing white matter disease
RS771810575 SAG Health Risk Likely pathogenic Retinitis pigmentosa 47, Oguchi disease-1
RS771810761 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS771810884 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS771811961 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771813705 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS771814273 SGCB Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS771815387 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 1, Short QT syndrome type 2
RS771815695 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS771816857 SLC34A3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive hypophosphatemic bone disease, SLC34A3-related disorder
RS771817026 FMO3 Health Risk Conflicting classifications of pathogenicity Trimethylaminuria, Trimethylaminuria
RS771818383 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS771818596 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Intellectual disability
RS771818723 COL4A3 Health Risk Likely pathogenic Alport syndrome 3b, autosomal recessive
RS771819245 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS771819481 PIGG Health Risk Pathogenic Intellectual disability, autosomal recessive 53
RS771820315 TGM1 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 1, Lamellar ichthyosis
RS77182042 SPTA1 Health Risk Conflicting classifications of pathogenicity Pyropoikilocytosis, hereditary
RS771820789 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS771822478 TCF20 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771822497 MYO18B Health Risk Pathogenic —
RS771822956 KIF1C Health Risk Conflicting classifications of pathogenicity Spastic ataxia 2, Hereditary spastic paraplegia
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