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
RS1273202231 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1273214757 SQSTM1 Health Risk Pathogenic See cases, Paget disease of bone 2
RS1273216154 MYORG Health Risk Likely pathogenic Basal ganglia calcification, idiopathic
RS1273220768 LZTR1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1273221058 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS1273223177 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1273225808 THPO Health Risk Pathogenic Amegakaryocytic thrombocytopenia, congenital
RS1273228187 DNAJB11 Health Risk Likely pathogenic —
RS1273244823 TTC8 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 8
RS1273246817 RYR2 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1273267349 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1273286625 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1273287120 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS1273292745 NT5C2 Health Risk Likely pathogenic Hereditary spastic paraplegia 45, Thyroid cancer
RS1273295928 XPC Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum, group C
RS1273296127 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1273298763 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Retinoblastoma
RS1273328322 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 13
RS1273332798 ATM Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS1273344545 RHOBTB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1273349782 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1273352530 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS1273355332 HTRA1 Health Risk Pathogenic Cerebral arteriopathy, autosomal dominant
RS1273366435 CEP78 Health Risk Likely pathogenic —
RS1273383569 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1273392818 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1273417376 PHACTR1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 70
RS1273422008 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS1273468859 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS1273496827 COL2A1 Health Risk Pathogenic/Likely pathogenic —
RS1273500868 HCFC1 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX
RS1273503048 ABCC8 Health Risk Conflicting classifications of pathogenicity Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS1273524525 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
RS1273541394 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS1273551046 MAP3K20 Health Risk Pathogenic —
RS1273553756 FOXRED1 Health Risk Likely pathogenic —
RS1273555684 COL9A3 Health Risk Conflicting classifications of pathogenicity —
RS1273566858 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1273567061 LRP5 Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS12735723 PPOX Health Risk Conflicting classifications of pathogenicity Variegate porphyria, childhood-onset
RS1273588349 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1273591389 MKS1 Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1273610101 OAT Health Risk Likely pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS1273620943 GATA1 Health Risk Pathogenic Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
RS1273641096 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, Multiple epiphyseal dysplasia
RS1273648145 FBXO7 Health Risk Pathogenic Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome
RS1273653963 SPTA1 Health Risk Pathogenic/Likely pathogenic —
RS1273669177 PHKB Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, Glycogen storage disease IXb
RS1273695811 SLC12A1 Health Risk Pathogenic/Likely pathogenic Bartter disease type 1, Bartter disease type 1
RS1273708047 KCND2 Health Risk Likely pathogenic Early myoclonic encephalopathy, Early myoclonic encephalopathy
RS1273708097 DES Health Risk Pathogenic/Likely pathogenic Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS1273711716 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS12737140 POMGNT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2O, Congenital Muscular Dystrophy
RS1273721978 SOX2 Health Risk Pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS1273763950 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS1273768268 SUOX Health Risk Likely pathogenic Sulfocysteinuria, Sulfite oxidase deficiency
RS1273775731 AP3B1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS1273776043 DNAJC12 Health Risk Pathogenic Hyperphenylalaninemia due to DNAJC12 deficiency, Hyperphenylalaninemia due to DNAJC12 deficiency
RS1273786747 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS1273791312 GBE1 Health Risk Likely pathogenic Glycogen storage disease, type IV
RS1273800088 LPIN1 Health Risk Pathogenic —
RS1273811425 WDR19 Health Risk Pathogenic/Likely pathogenic Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5
RS1273822033 NUBPL Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 21
RS1273822522 MBTPS1 Health Risk Pathogenic Spondyloepiphyseal dysplasia, kondo-fu type
RS1273822899 RNASEH2A Health Risk Likely pathogenic Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4
RS1273832397 SDHC Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 3, Gastrointestinal stromal tumor
RS1273842424 CLDN14 Health Risk Pathogenic/Likely pathogenic Hearing impairment, Autosomal recessive nonsyndromic hearing loss 29
RS1273874335 LAMA3 Health Risk Pathogenic —
RS1273874412 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1273881385 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1273884286 GABRB2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Intellectual disability
RS1273893076 KIF5A Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS1273934052 RHO Health Risk Likely pathogenic Retinitis pigmentosa 4, Retinitis pigmentosa 4
RS1273937983 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS1273957629 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1273963356 PLA2G6 Health Risk Likely pathogenic Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS1273963446 H1-4 Health Risk Conflicting classifications of pathogenicity —
RS1273966358 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome
RS1273995533 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS1274007753 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1274036689 SOX9 Health Risk Pathogenic CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, Camptomelic dysplasia
RS12740374 SORT1 Health Risk association LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6, LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6
RS1274067311 CFH Health Risk Likely pathogenic CFH-related disorder, Hemolytic uremic syndrome
RS1274076957 SERAC1 Health Risk Likely pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy
RS1274082365 AP3B1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS1274087980 FOXG1 Health Risk Conflicting classifications of pathogenicity FOXG1 disorder, FOXG1 disorder
RS1274105133 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS1274142542 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS1274167395 COL17A1 Health Risk Pathogenic Epithelial recurrent erosion dystrophy, Epithelial recurrent erosion dystrophy
RS1274176298 HMGCL Health Risk Pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS1274183370 ARID1B Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome 1, Inborn genetic diseases
RS1274185001 COL11A1 Health Risk Pathogenic —
RS1274201044 SLC5A6 Health Risk Pathogenic/Likely pathogenic Neurodegeneration, infantile-onset
RS1274241367 LOXHD1 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS1274274514 PPP1R3F Health Risk Conflicting classifications of pathogenicity —
RS1274296464 HERC1 Health Risk Likely pathogenic —
RS1274309821 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS1274312627 SERPING1 Health Risk Likely pathogenic —
RS1274321592 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS1274321707 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
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