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
RS1008544115 EMC10 Health Risk Pathogenic Neurodevelopmental disorder with dysmorphic facies and variable seizures, Neurodevelopmental disorder with dysmorphic facies and variable seizures
RS1008555507 SLIT2 Health Risk Pathogenic Congenital anomaly of kidney and urinary tract, Congenital anomaly of kidney and urinary tract
RS1008561025 NADSYN1 Health Risk Pathogenic Vertebral, cardiac
RS1008611582 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS1008621697 THBD Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
RS1008634601 HNRNPK Health Risk Likely pathogenic Au-Kline syndrome, Au-Kline syndrome
RS1008637055 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1008642 CAV3 Health Risk Pathogenic Distal myopathy, Tateyama type
RS1008678288 COL4A3 Health Risk Conflicting classifications of pathogenicity —
RS1008679317 SQSTM1 Health Risk Pathogenic Paget disease of bone 2, early-onset
RS1008686772 OTOA Health Risk Conflicting classifications of pathogenicity —
RS1008733639 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1008745697 MAN2B1 Health Risk Pathogenic/Likely pathogenic Deficiency of alpha-mannosidase, Familial cancer of breast
RS1008758499 GABBR2 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS1008821019 MFSD8 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Inborn genetic diseases
RS1008834111 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS1008862252 TRPM4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Progressive familial heart block type IB
RS1008881855 CACNA1A Health Risk Likely pathogenic Cerebral palsy, Cerebral palsy
RS1008906426 ABCC8 Health Risk Pathogenic/Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS1008907564 NIPA1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Hereditary spastic paraplegia 6
RS1008984719 LOC111365204 Health Risk Pathogenic North Carolina macular dystrophy, Progressive bifocal chorioretinal atrophy
RS1009026527 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS1009050362 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS10090787 SNTB1 Health Risk association Lip and oral cavity carcinoma, Lip and oral cavity carcinoma
RS1009090950 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1009131948 TTN Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1009209509 SBF1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4B3, Charcot-Marie-Tooth disease type 4B3
RS1009289636 GDF1 Health Risk Pathogenic —
RS1009298200 ALG1 Health Risk Likely pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS1009311413 ANKS6 Health Risk Pathogenic Nephronophthisis 16, Nephronophthisis 16
RS1009407656 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1009412984 GHR Health Risk Pathogenic Laron-type isolated somatotropin defect, Laron-type isolated somatotropin defect
RS1009422076 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Deafness
RS1009435359 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1009457715 BCKDHB Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS1009463279 TBX1 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, Cardiovascular phenotype
RS1009503062 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyl transferase II deficiency, severe infantile form
RS1009552469 CRB1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS1009557453 IFT43 Health Risk Likely pathogenic —
RS1009569366 AIP Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1009574694 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1009716258 CLCN1 Health Risk Pathogenic/Likely pathogenic Congenital myotonia, autosomal recessive form
RS1009762900 NPHS1 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1009769670 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS1009807148 DUOX2 Health Risk Pathogenic/Likely pathogenic See cases, See cases
RS1009822245 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1009828411 PRCD Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1009850780 GBA1 Health Risk Pathogenic/Likely pathogenic Gaucher disease, Parkinson disease
RS1009872980 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1009877821 PEX1 Health Risk Conflicting classifications of pathogenicity Zellweger spectrum disorders, Heimler syndrome 1
RS1009906758 AP3B2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1009925927 KMT2D Health Risk Pathogenic Abnormality of the nervous system, Abnormality of the nervous system
RS1010033960 DHCR24 Health Risk Pathogenic/Likely pathogenic Non-immune hydrops fetalis, Non-immune hydrops fetalis
RS1010038586 TYR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, TYR-related disorder
RS1010078101 ALDH3A2 Health Risk Conflicting classifications of pathogenicity —
RS1010112210 RECQL Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1010121578 MTOR Health Risk Conflicting classifications of pathogenicity MTOR-related disorder, Inborn genetic diseases
RS1010143466 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1010145375 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS1010165716 USP9X Health Risk Likely pathogenic —
RS1010183160 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1010184002 PEX6 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 4B, Peroxisome biogenesis disorder
RS1010201937 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS1010235940 COL11A1 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 1, Stickler syndrome type 2
RS1010245755 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1010285962 CC2D2A Health Risk Conflicting classifications of pathogenicity COACH syndrome 1, Meckel-Gruber syndrome
RS1010286043 ADGRE2 Health Risk Conflicting classifications of pathogenicity —
RS1010302320 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young type 2
RS1010327160 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1010331313 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS1010347467 LRAT Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Leber congenital amaurosis 14
RS1010361619 ANKRD26 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 2, Thrombocytopenia 2
RS1010372555 POLG Health Risk Pathogenic/Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1010403072 BBS12 Health Risk Pathogenic Bardet-Biedl syndrome 12, Bardet-Biedl syndrome
RS1010431551 FRAS1 Health Risk Pathogenic —
RS1010446295 MEIOB Health Risk Pathogenic Premature ovarian failure 23, Premature ovarian failure 23
RS1010541689 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1010560546 PLK4 Health Risk Likely pathogenic —
RS1010575243 TBCD Health Risk Pathogenic —
RS1010580453 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1010619841 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS1010666282 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1010722195 DONSON Health Risk Pathogenic/Likely pathogenic Meier-Gorlin syndrome, Microcephaly
RS1010724201 HPS5 Health Risk Pathogenic —
RS1010745565 LIFR Health Risk Likely pathogenic —
RS1010746038 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1010750511 RNF220 Health Risk Pathogenic Leukodystrophy, hypomyelinating
RS1010755325 MKKS Health Risk Conflicting classifications of pathogenicity McKusick-Kaufman syndrome, Bardet-Biedl syndrome 6
RS1010772189 RP9 Health Risk Likely pathogenic Retinitis pigmentosa 9, Retinitis pigmentosa 9
RS1010784407 ADGRV1 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2C, Febrile seizures
RS1010796800 COMP Health Risk Likely pathogenic See cases, See cases
RS1010907740 GPAA1 Health Risk Likely pathogenic Glycosylphosphatidylinositol biosynthesis defect 15, Glycosylphosphatidylinositol biosynthesis defect 15
RS1010909113 CYFIP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1010958758 ANO5 Health Risk Conflicting classifications of pathogenicity Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS1010980331 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS1010982936 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinal dystrophy
RS1011045344 AP4E1 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1011076278 TTN Health Risk Likely pathogenic —
RS1011096937 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1011135926 HPS6 Health Risk Pathogenic —
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