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
RS1249502531 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1249530918 LSS Health Risk Likely pathogenic Hypotrichosis 14, Cataract 44
RS1249532992 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1249534623 FANCD2 Health Risk Likely pathogenic Fanconi anemia complementation group D2, Fanconi anemia complementation group D2
RS1249540119 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS1249553271 SOX2 Health Risk Pathogenic/Likely pathogenic Developmental disorder, Developmental disorder
RS1249563793 HNF1A Health Risk Pathogenic Type 1 diabetes mellitus 20, Monogenic diabetes
RS1249568272 LDLR Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS1249593340 COL5A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS1249595284 RFXAP Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency
RS1249621033 BIN1 Health Risk Likely pathogenic Myopathy, centronuclear
RS1249627522 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS1249645541 AMT Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1249651303 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1249659597 HOXB13 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, HOXB13-related disorder
RS1249666333 KATNIP Health Risk Likely pathogenic —
RS1249675321 PIGS Health Risk Pathogenic Glycosylphosphatidylinositol biosynthesis defect 18, Glycosylphosphatidylinositol biosynthesis defect 18
RS1249689678 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1249693564 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1249694833 FKRP Health Risk Pathogenic/Likely pathogenic Abnormality of the musculature, Walker-Warburg congenital muscular dystrophy
RS1249717519 CACNA1E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1249719262 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1249726034 LZTR1 Health Risk Likely pathogenic Noonan syndrome 2, LZTR1-related schwannomatosis
RS1249738773 COL6A1 Health Risk Pathogenic —
RS1249742050 INF2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate E
RS1249757355 INF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS1249789100 COG4 Health Risk Pathogenic/Likely pathogenic COG4-congenital disorder of glycosylation, Microcephalic osteodysplastic dysplasia
RS1249821286 SLC3A1 Health Risk Likely pathogenic Cystinuria, Cystinuria
RS1249825304 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS1249830698 TRNT1 Health Risk Pathogenic Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
RS1249838546 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS1249841130 DDHD2 Health Risk Pathogenic Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54
RS1249844474 TG Health Risk Pathogenic —
RS1249860975 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1249862287 RAG1 Health Risk Likely pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS1249897117 BEST1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1249897804 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1249900164 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1249901214 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3
RS1249913357 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1249918852 DEAF1 Health Risk Pathogenic —
RS1249942711 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1249944381 WNT10A Health Risk Pathogenic/Likely pathogenic Odonto-onycho-dermal dysplasia, Tooth agenesis
RS1249951282 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis
RS1249951465 ITPR1 Health Risk Likely pathogenic —
RS1249954316 CPT1A Health Risk Pathogenic/Likely pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS1249957920 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Inborn genetic diseases
RS1249960937 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial ovarian cancer
RS1249984461 ABCC6 Health Risk Pathogenic/Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Pseudoxanthoma elasticum
RS1249991480 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, See cases
RS1250002854 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS1250017056 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1250029517 GPI Health Risk Pathogenic —
RS1250037816 FUCA1 Health Risk Likely pathogenic Fucosidosis, Fucosidosis
RS1250072284 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS1250073917 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS1250097723 ALMS1 Health Risk Pathogenic Leber congenital amaurosis, Alstrom syndrome
RS1250100253 ABCB4 Health Risk Pathogenic —
RS1250112198 GUSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS1250113146 CTC1 Health Risk Likely pathogenic Cerebroretinal microangiopathy with calcifications and cysts 1, Cerebroretinal microangiopathy with calcifications and cysts 1
RS1250118764 CD19 Health Risk Pathogenic —
RS1250121530 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1250133030 RPGR Health Risk Likely pathogenic —
RS1250136125 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1250146203 KIF7 Health Risk Pathogenic Acrocallosal syndrome, Acrocallosal syndrome
RS1250172816 G6PC1 Health Risk Likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS1250204261 F7 Health Risk Conflicting classifications of pathogenicity Abnormal bleeding, Abnormal bleeding
RS1250214380 RP1 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 1
RS1250217464 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1250224277 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS1250248245 ERCC6 Health Risk Pathogenic DE SANCTIS-CACCHIONE SYNDROME, DE SANCTIS-CACCHIONE SYNDROME
RS1250253395 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS1250266065 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1250268669 WDR81 Health Risk Pathogenic Cerebellar ataxia, intellectual disability
RS1250269841 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Autosomal dominant polycystic liver disease
RS1250273464 RP1L1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1250284097 LMNA Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS1250297448 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS1250300189 SGSH Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-A
RS1250302805 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1250317776 EYS Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa 25
RS1250318081 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS1250324207 COL6A1 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS1250336519 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS1250336644 TTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1250351189 POMT1 Health Risk Pathogenic/Likely pathogenic Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS1250409781 OPA3 Health Risk Conflicting classifications of pathogenicity 3-Methylglutaconic aciduria type 3, Optic atrophy 3
RS1250411982 MTO1 Health Risk Pathogenic/Likely pathogenic Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
RS1250432793 ANKRD11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KBG syndrome
RS1250438314 WT1 Health Risk Likely pathogenic WT1-related disorder, WT1-related disorder
RS1250457347 RYR2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1250461669 TTN Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS1250462450 MYH2 Health Risk Pathogenic Myopathy, proximal
RS1250463562 CYP17A1 Health Risk Pathogenic/Likely pathogenic Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
RS1250475254 ALPK3 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1250492485 VWF Health Risk Pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS1250509122 F10 Health Risk Pathogenic Hereditary factor X deficiency disease, Hereditary factor X deficiency disease
RS1250537283 IBA57 Health Risk Likely pathogenic Multiple mitochondrial dysfunctions syndrome 3, Hereditary spastic paraplegia 74
RS1250541303 TYMP Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS1250541852 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
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