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
RS151292369 VPS45 Health Risk Conflicting classifications of pathogenicity Congenital neutropenia-myelofibrosis-nephromegaly syndrome, Inborn genetic diseases
RS151292828 LAMB2 Health Risk Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome
RS151293350 ACE Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, Renal tubular dysgenesis
RS151293705 EVC Health Risk Conflicting classifications of pathogenicity Curry-Hall syndrome, Ellis-van Creveld syndrome
RS151294087 ALDH5A1 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Inborn genetic diseases
RS151294221 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS151294547 EPS8L2 Health Risk Conflicting classifications of pathogenicity —
RS151296346 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, FREM2-related disorder
RS151296940 GDF2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Telangiectasia
RS151296951 TECTA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS151298198 WASHC5 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome
RS151299406 CPAP Health Risk Conflicting classifications of pathogenicity Seckel syndrome 4, Microcephaly 6
RS151299743 BCL9 Health Risk Conflicting classifications of pathogenicity —
RS151300636 RARS1 Health Risk Conflicting classifications of pathogenicity —
RS151301464 AP4M1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Hereditary spastic paraplegia 50
RS151302743 HADHB Health Risk Conflicting classifications of pathogenicity Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
RS151303346 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS151303712 EMC10 Health Risk Pathogenic Neurodevelopmental disorder with dysmorphic facies and variable seizures, Malignant tumor of urinary bladder
RS151303959 DYRK1A Health Risk Conflicting classifications of pathogenicity DYRK1A-related intellectual disability syndrome, Inborn genetic diseases
RS151304085 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS151304543 ABCC2 Health Risk Conflicting classifications of pathogenicity ABCC2-related disorder, ABCC2-related disorder
RS151304828 CP Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, Deficiency of ferroxidase
RS151306047 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Acute febrile neutrophilic dermatosis
RS151306309 PPA2 Health Risk Conflicting classifications of pathogenicity —
RS151306376 PHEX Health Risk Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets, Inborn genetic diseases
RS151308544 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS151308667 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS151308770 TRPV6 Health Risk Conflicting classifications of pathogenicity Malignant tumor of urinary bladder, Clear cell carcinoma of kidney
RS151309106 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 8
RS151309174 GALT Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Gastric cancer
RS151309609 TTC21B Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Nephronophthisis
RS151309813 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS151310492 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS151310601 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS151311306 CP Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, Deficiency of ferroxidase
RS151311806 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Inborn genetic diseases
RS151312475 PDE3A Health Risk Conflicting classifications of pathogenicity —
RS151312595 PEX5 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2A (Zellweger)
RS151312899 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS151314033 DDX53 Health Risk Conflicting classifications of pathogenicity —
RS151314564 XIRP2 Health Risk Conflicting classifications of pathogenicity XIRP2-related disorder, XIRP2-related disorder
RS151314714 NKX2-5 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, Cardiovascular phenotype
RS151315304 MFF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS151315725 FHL1 Health Risk Conflicting classifications of pathogenicity —
RS151315883 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Regional enteritis
RS151316028 RP1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 1
RS151316420 MUTYH Health Risk Conflicting classifications of pathogenicity Carcinoma of colon, Hereditary cancer-predisposing syndrome
RS151316424 MEGF10 Health Risk Conflicting classifications of pathogenicity MEGF10-related myopathy, MEGF10-related disorder
RS151316635 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS151317042 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS151317163 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, Acrocallosal syndrome
RS151317339 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, Neurodevelopmental disorder with cerebellar atrophy and with or without seizures
RS151317625 ASXL1 Health Risk Conflicting classifications of pathogenicity —
RS151317653 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Inborn genetic diseases
RS151317754 DYSF Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS151317882 CIITA Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, CIITA-related disorder
RS151318349 TCTN2 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 24, Meckel syndrome
RS151318750 LMNB2 Health Risk Conflicting classifications of pathogenicity Lipodystrophy, partial
RS151319255 COL11A2 Health Risk Conflicting classifications of pathogenicity Otospondylomegaepiphyseal dysplasia, autosomal recessive
RS151319324 PMM2 Health Risk Pathogenic/Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS151319700 PROC Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein C deficiency, autosomal dominant
RS151320540 EIF2B3 Health Risk Conflicting classifications of pathogenicity Vanishing white matter disease, Vanishing white matter disease
RS151321629 LCT Health Risk Conflicting classifications of pathogenicity Congenital lactase deficiency, Congenital lactase deficiency
RS151321990 GCLC Health Risk Conflicting classifications of pathogenicity —
RS151322409 RFT1 Health Risk Conflicting classifications of pathogenicity RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation
RS151323851 LRSAM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2P, Inborn genetic diseases
RS151324784 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS151324893 SLC2A10 Health Risk Conflicting classifications of pathogenicity Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS151325202 PCNT Health Risk Conflicting classifications of pathogenicity PCNT-related disorder, PCNT-related disorder
RS151325267 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS151325948 RYR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RYR1-related disorder
RS151327900 GFAP Health Risk Conflicting classifications of pathogenicity —
RS151328869 PAPSS2 Health Risk Conflicting classifications of pathogenicity Spondyloepimetaphyseal dysplasia, PAPSS2 type
RS151329128 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS151329289 SHROOM4 Health Risk Conflicting classifications of pathogenicity —
RS151330461 PTH1R Health Risk Conflicting classifications of pathogenicity Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia
RS151330473 ROS1 Health Risk Pathogenic Lung adenocarcinoma, Lung adenocarcinoma
RS151330612 WDR81 Health Risk Conflicting classifications of pathogenicity Hydrocephalus, congenital
RS151331381 WNK1 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C, Neuropathy
RS151331478 SPTBN2 Health Risk Pathogenic —
RS151331559 PPA2 Health Risk Conflicting classifications of pathogenicity Sudden cardiac failure, infantile
RS151332020 TSEN54 Health Risk Conflicting classifications of pathogenicity Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia
RS151332356 RB1CC1 Health Risk Conflicting classifications of pathogenicity —
RS151332876 PRPF6 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS151334566 PDE6B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS151334775 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS151335217 TP63 Health Risk Conflicting classifications of pathogenicity Orofacial cleft 8, TP63-Related Spectrum Disorders
RS151335249 CYP27B1 Health Risk Conflicting classifications of pathogenicity Vitamin D-dependent rickets, type 1
RS151335623 CYP11B1 Health Risk Conflicting classifications of pathogenicity Glucocorticoid-remediable aldosteronism, Deficiency of steroid 11-beta-monooxygenase
RS151338404 SPATA7 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Leber congenital amaurosis 3
RS151338614 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS151339002 FZD6 Health Risk Pathogenic Nonsyndromic congenital nail disorder 1, Nail disease
RS151339003 FZD6 Health Risk Pathogenic Nonsyndromic congenital nail disorder 1, Nail disease
RS151340616 SLC25A20 Health Risk Pathogenic Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS151340620 CLCN5 Health Risk Pathogenic Dent disease type 1, Proteinuria
RS151340621 CLCN5 Health Risk Pathogenic Dent disease type 1, Dent disease type 1
RS151340622 CLCN5 Health Risk Pathogenic Dent disease type 1, Dent disease type 1
RS151340623 CLCN5 Health Risk Pathogenic Dent disease type 1, Dent disease type 1
RS151340624 CLCN5 Health Risk Conflicting classifications of pathogenicity X-linked recessive nephrolithiasis with renal failure, CLCN5-related disorder
RS151340625 CLCN5 Health Risk Pathogenic Dent disease type 1, X-linked recessive nephrolithiasis with renal failure
« Prev 1 ... 753 754 755 756 757 758 759 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →