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
RS146468152 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS146469162 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS146469379 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS146470870 GABRG2 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, EPILEPSY
RS1464716280 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS146471967 PCSK9 Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS146472115 ERBIN Health Risk Conflicting classifications of pathogenicity ERBIN-related disorder, ERBIN-related disorder
RS146472353 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS1464727668 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS146472818 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS1464732473 C8B Health Risk Pathogenic —
RS146473306 IL1RN Health Risk Conflicting classifications of pathogenicity Sterile multifocal osteomyelitis with periostitis and pustulosis, Autoinflammatory syndrome
RS1464734494 EP300 Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS1464741803 PEX7 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B
RS146474502 NAF1 Health Risk Conflicting classifications of pathogenicity —
RS146474568 SDCCAG8 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 7, Bardet-Biedl syndrome 16
RS146474860 MYH7 Health Risk Conflicting classifications of pathogenicity MYH7-related skeletal myopathy, Dilated cardiomyopathy 1S
RS146474985 ANKRD11 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS146475474 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS146476007 PEX16 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS146476305 GNPTAB Health Risk Conflicting classifications of pathogenicity Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS1464766327 PEX7 Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 1, Rhizomelic chondrodysplasia punctata type 1
RS1464766994 RFX5 Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, MHC class II deficiency
RS1464769206 MYBPC3 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4
RS1464771666 TPO Health Risk Likely pathogenic Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS146477590 PPM1D Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, PPM1D-related disorder
RS146477698 TF Health Risk Conflicting classifications of pathogenicity Atransferrinemia, TF-related disorder
RS146478431 IL17RA Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, IL17RA-related disorder
RS146478958 PNKP Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures
RS146480420 EPCAM Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS146480546 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS1464817302 FOXE3 Health Risk Pathogenic Congenital primary aphakia, Anterior segment dysgenesis
RS146481873 GLRA1 Health Risk Conflicting classifications of pathogenicity Hereditary hyperekplexia, Seizure
RS146482011 TACR3 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 11 with or without anosmia, Hypogonadotropic hypogonadism 11 with or without anosmia
RS146482048 D2HGDH Health Risk Conflicting classifications of pathogenicity D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1
RS1464825418 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B
RS146482586 CEP152 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146482651 DCLRE1B Health Risk Conflicting classifications of pathogenicity Hoyeraal-Hreidarsson syndrome, Autosomal recessive dyskeratosis congenita
RS146484645 TNFSF11 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 2, TNFSF11-related disorder
RS146485488 WDR62 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, WDR62-related disorder
RS1464861162 TG Health Risk Pathogenic TG-related disorder, TG-related disorder
RS146486757 ERBB3 Health Risk Pathogenic Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS1464871076 LAMB3 Health Risk Pathogenic Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS146487404 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, MYH9-related disorder
RS1464874776 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS146487634 APTX Health Risk Conflicting classifications of pathogenicity Ataxia, early-onset
RS146487673 RBP3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS146488112 VPS13D Health Risk Conflicting classifications of pathogenicity Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, Inborn genetic diseases
RS1464881276 KCNQ5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1464886350 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1464889530 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1464894081 PROM1 Health Risk Likely pathogenic —
RS1464897690 SLC26A2 Health Risk Likely pathogenic Achondrogenesis, type IB
RS146490004 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS146490594 COL17A1 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, non-Herlitz type
RS1464907263 ERCC8 Health Risk Pathogenic —
RS146490788 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS146491000 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS146491054 IL1RN Health Risk Conflicting classifications of pathogenicity Sterile multifocal osteomyelitis with periostitis and pustulosis, Sterile multifocal osteomyelitis with periostitis and pustulosis
RS1464914318 CUX1 Health Risk Conflicting classifications of pathogenicity Global developmental delay with or without impaired intellectual development, Inborn genetic diseases
RS146491847 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS1464920989 TYR Health Risk Pathogenic —
RS1464925145 MLYCD Health Risk Pathogenic Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS146492790 C19orf12 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 43, Neurodegeneration with brain iron accumulation 4
RS146493613 FRMPD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1464941427 GRIN1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS146494374 CYP4V2 Health Risk Pathogenic Bietti crystalline corneoretinal dystrophy, Bietti crystalline corneoretinal dystrophy
RS146495071 CYP19A1 Health Risk Conflicting classifications of pathogenicity Aromatase deficiency, Aromatase deficiency
RS146495719 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 11, Long QT syndrome
RS146495785 KMT2C Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 2, KMT2C-related disorder
RS146496197 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Tibial muscular dystrophy
RS1464962436 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS1464962854 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1464965737 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1464966535 ATP6V0A4 Health Risk Pathogenic Renal tubular acidosis, distal
RS146496725 TTC21B Health Risk Conflicting classifications of pathogenicity Joubert syndrome 1, Jeune thoracic dystrophy
RS146497045 TGFBR2 Health Risk Uncertain significance/Uncertain risk allele Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2
RS146497334 MYLK2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1
RS146497999 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS1464980383 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS146498076 PLB1 Health Risk Conflicting classifications of pathogenicity —
RS146498231 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Autoimmune thyroid disease
RS1464985103 SHANK3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SHANK3-related disorder
RS146498992 PTBP1 Health Risk Conflicting classifications of pathogenicity —
RS1464991419 RS1 Health Risk Likely pathogenic Juvenile retinoschisis, Juvenile retinoschisis
RS146499495 MMP9 Health Risk Conflicting classifications of pathogenicity Metaphyseal anadysplasia 2, Metaphyseal anadysplasia 2
RS146499679 ACTN4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146500584 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Epidermolysis bullosa
RS146501091 FLAD1 Health Risk Conflicting classifications of pathogenicity FLAD1-related disorder, FLAD1-related disorder
RS146501096 SI Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146501208 GANAB Health Risk Conflicting classifications of pathogenicity GANAB-related disorder, GANAB-related disorder
RS146501212 LRP4 Health Risk Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome, Sclerosteosis 2
RS146501297 PIGO Health Risk Conflicting classifications of pathogenicity Hyperphosphatasia with intellectual disability syndrome 2, Inborn genetic diseases
RS146501326 DNAI1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1465016316 MSH2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS1465018524 VWF Health Risk Likely pathogenic —
RS146502276 TCAP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 25
RS1465026258 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS146502705 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS146503501 TARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 21, Combined oxidative phosphorylation defect type 21
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