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
RS750947988 TTN Health Risk Likely pathogenic —
RS750949635 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS750949734 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS750950408 TMEM67 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 6, Joubert syndrome
RS75095286 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS750954043 CNGA1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 49, Retinitis pigmentosa
RS750954949 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS750955277 KCNQ5 Health Risk Conflicting classifications of pathogenicity —
RS750955319 ASXL1 Health Risk Conflicting classifications of pathogenicity Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS750955849 ADA2 Health Risk Conflicting classifications of pathogenicity Deficiency of adenosine deaminase 2, Sneddon syndrome
RS750955953 CHRNA1 Health Risk Conflicting classifications of pathogenicity CHRNA1-related disorder, Lethal multiple pterygium syndrome
RS750956714 HADHB Health Risk Likely pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
RS750958377 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS750959420 SETX Health Risk Pathogenic/Likely pathogenic Spinocerebellar ataxia, autosomal recessive
RS750959680 HCN2 Health Risk Conflicting classifications of pathogenicity See cases, Inborn genetic diseases
RS750960862 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS750961319 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS750961823 ETFB Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS750962965 IQCB1 Health Risk Pathogenic Senior-Loken syndrome 5, Leber congenital amaurosis
RS750965140 BTD Health Risk Pathogenic/Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS75096551 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS750965801 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS750965939 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS75096777 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS750968239 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS750968891 STXBP1 Health Risk Conflicting classifications of pathogenicity STXBP1-related disorder, Early-infantile DEE
RS750969198 TTN Health Risk Conflicting classifications of pathogenicity —
RS750969764 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS750971084 GARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS750971390 NDUFS1 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 1
RS750971687 ERCC4 Health Risk Pathogenic Fanconi anemia complementation group Q, Xeroderma pigmentosum
RS750972473 CPLANE1 Health Risk Likely pathogenic Hepatocellular carcinoma, Hepatocellular carcinoma
RS750972624 POMT1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
RS750972729 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS750972972 MID2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 101
RS750973870 FBXL4 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS750973947 COL12A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Bethlem myopathy 2
RS750974539 HOGA1 Health Risk Pathogenic/Likely pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS750974590 TULP1 Health Risk Likely pathogenic —
RS750974612 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Inborn genetic diseases
RS750975358 KAT6A Health Risk Conflicting classifications of pathogenicity —
RS750975716 NEU1 Health Risk Conflicting classifications of pathogenicity —
RS750976634 TRAPPC11 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
RS750979204 SDHAF2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma
RS750979330 FRMD7 Health Risk Conflicting classifications of pathogenicity Nystagmus 1, congenital
RS750979692 ACAN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS75097996 SLC26A2 Health Risk Conflicting classifications of pathogenicity Multiple epiphyseal dysplasia type 4, Achondrogenesis
RS75098003 ROBO3 Health Risk Conflicting classifications of pathogenicity Gaze palsy, familial horizontal
RS750980386 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS750980786 F7 Health Risk Likely pathogenic Abnormality of coagulation, Abnormality of coagulation
RS750981128 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiomyopathy
RS750981339 MTOR Health Risk Conflicting classifications of pathogenicity —
RS750981446 GPSM2 Health Risk Pathogenic —
RS750982155 FANCG Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS750982844 NCKAP1L Health Risk Pathogenic/Likely pathogenic Immunodeficiency 72 with autoinflammation, Immunodeficiency 72 with autoinflammation
RS750984038 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS750984324 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS750984566 ATP6V0A2 Health Risk Likely pathogenic ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation
RS750984768 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS750986210 OTOF Health Risk Likely pathogenic —
RS750987123 PCARE Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS750987143 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS750987349 ABCA4 Health Risk Pathogenic —
RS750987724 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS750988521 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS750988816 EPM2A Health Risk Pathogenic Progressive myoclonic epilepsy, Lafora disease
RS750988872 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS750989404 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS750990691 GNPTG Health Risk Pathogenic —
RS750990843 TTN Health Risk Likely pathogenic Early-onset myopathy with fatal cardiomyopathy, Early-onset myopathy with fatal cardiomyopathy
RS750991026 POLH Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum variant type, POLH-related disorder
RS750991541 ABCB11 Health Risk Conflicting classifications of pathogenicity ABCB11-related disorder, ABCB11-related disorder
RS75099211 CALR3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 19, Cardiovascular phenotype
RS750994603 IGHMBP2 Health Risk Pathogenic Distal spinal muscular atrophy, Autosomal recessive distal spinal muscular atrophy 1
RS750995181 CFAP298 Health Risk Pathogenic Primary ciliary dyskinesia 26, Primary ciliary dyskinesia 26
RS750995470 COL11A2 Health Risk Pathogenic Otospondylomegaepiphyseal dysplasia, autosomal dominant
RS750995691 TRNT1 Health Risk Likely pathogenic Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Clear cell carcinoma of kidney
RS750995972 NR2E3 Health Risk Pathogenic —
RS750996600 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS750996718 ASXL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750996728 ADGRG1 Health Risk Pathogenic Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria
RS750997069 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS750997506 SCN1A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS750997585 ZBTB24 Health Risk Likely pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2
RS750997715 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Fanconi anemia
RS750998195 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS750998313 CPT1A Health Risk Pathogenic/Likely pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS750999263 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS751000085 SDHB Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Pheochromocytoma
RS751000250 CKAP2L Health Risk Pathogenic Intellectual disability, Hypogonadism
RS751000273 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS751000651 MYO5B Health Risk Pathogenic DIARRHEA 2, WITH MICROVILLUS ATROPHY AND CHOLESTASIS
RS751001500 NLRC4 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 4, Periodic fever-infantile enterocolitis-autoinflammatory syndrome
RS751002045 ACADVL Health Risk Pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS751002986 NBAS Health Risk Pathogenic —
RS751003534 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Inborn genetic diseases
RS751003573 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS751005507 RBCK1 Health Risk Pathogenic Polyglucosan body myopathy type 1, Polyglucosan body myopathy type 1
RS751005619 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS751006626 POLR1C Health Risk Pathogenic/Likely pathogenic Hypomyelinating leukodystrophy 11, Hypomyelinating leukodystrophy 11
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