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
RS767577574 DYNC2I1 Health Risk Pathogenic Short-rib thoracic dysplasia 8 with or without polydactyly, Short-rib thoracic dysplasia 8 with or without polydactyly
RS767579114 YARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate C, Inborn genetic diseases
RS767579843 SACS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spastic paraplegia
RS767580738 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS767581950 PYCR1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive cutis laxa type 2B, PYCR1-related de Barsy syndrome
RS767583652 EARS2 Health Risk Pathogenic —
RS767584307 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS767584322 COQ8A Health Risk Likely pathogenic Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS767584361 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS767584572 AGPS Health Risk Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 3, Inborn genetic diseases
RS767585930 VRK1 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 1A, Congenital pontocerebellar hypoplasia type 1
RS767586362 AGXT Health Risk Pathogenic —
RS767587416 BARD1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS767587816 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS767588159 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS767589799 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome
RS767590298 PITRM1 Health Risk Conflicting classifications of pathogenicity —
RS767591489 PRX Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS767591619 KMT2D Health Risk Likely pathogenic —
RS767591879 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3
RS767592553 SCN2A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 11
RS767593840 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS767593863 PLCG2 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3
RS767593892 MMUT Health Risk Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS767594147 ALDH18A1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Cutis laxa
RS767595162 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS767595183 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS767595335 SRD5A2 Health Risk Pathogenic/Likely pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
RS767595964 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS767596385 SDHA Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS767596766 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS767597016 KANK1 Health Risk Conflicting classifications of pathogenicity —
RS767597690 HIBCH Health Risk Likely pathogenic 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency
RS767598017 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS767599353 CYP11B1 Health Risk Pathogenic —
RS7675998 - Health Risk association Chronic osteomyelitis, Chronic osteomyelitis
RS767601069 CANT1 Health Risk Pathogenic —
RS767601252 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A2
RS767601869 ALDH5A1 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS767601899 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Basal cell carcinoma
RS767602851 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS767602961 NDUFV1 Health Risk Likely pathogenic —
RS767603357 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS767603929 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS767603980 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767604650 DGUOK Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS767605412 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS767605543 NBAS Health Risk Conflicting classifications of pathogenicity Infantile liver failure syndrome 2, Inborn genetic diseases
RS767605722 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS767606917 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS767607825 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS767607960 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS767608788 ETFB Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS767609290 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS767609303 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS767609311 RINT1 Health Risk Conflicting classifications of pathogenicity —
RS767610650 MTRR Health Risk Pathogenic/Likely pathogenic Neural tube defects, folate-sensitive
RS767611277 MBD5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767611387 CYP7B1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 5A, Spastic paraplegia
RS767611891 CDON Health Risk Likely pathogenic Congenital ocular coloboma, Congenital ocular coloboma
RS767612617 SALL1 Health Risk Conflicting classifications of pathogenicity Townes syndrome, Inborn genetic diseases
RS767612847 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS767613429 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS767613433 USH2A Health Risk Pathogenic —
RS767613486 PRKAG2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 6, Wolff-Parkinson-White pattern
RS767613745 ACAD8 Health Risk Conflicting classifications of pathogenicity Deficiency of isobutyryl-CoA dehydrogenase, ACAD8-related disorder
RS767615975 MYO7A Health Risk Likely pathogenic —
RS767616057 TBC1D24 Health Risk Likely pathogenic TBC1D24-related disorder, Lung cancer
RS767616734 TRIM37 Health Risk Conflicting classifications of pathogenicity Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS767618083 LIFR Health Risk Conflicting classifications of pathogenicity Stuve-Wiedemann syndrome, Stuve-Wiedemann syndrome
RS767618089 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS767618585 PHIP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PHIP-related disorder
RS767618789 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS767619131 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS767619637 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy 4
RS767619776 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS767620544 COL4A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767621707 PCDH15 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23
RS767623493 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS767624218 COQ2 Health Risk Conflicting classifications of pathogenicity Coenzyme Q10 deficiency, primary
RS767624733 DNAAF11 Health Risk Pathogenic Primary ciliary dyskinesia 19, Primary ciliary dyskinesia 19
RS76762510 ALDH4A1 Health Risk Conflicting classifications of pathogenicity Hyperprolinemia type 2, Hyperprolinemia type 2
RS767625820 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS767626189 PROC Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein C deficiency, autosomal dominant
RS767626323 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS767628258 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS767628388 LCAT Health Risk Conflicting classifications of pathogenicity LCAT deficiency, Cardiovascular phenotype
RS767629627 DNHD1 Health Risk Pathogenic —
RS767630412 USH2A Health Risk Likely pathogenic Retinal dystrophy, Usher syndrome type 2A
RS767630424 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS767630555 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Inborn genetic diseases
RS767630646 IGHMBP2 Health Risk Pathogenic/Likely pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS767631456 SLX4 Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group P
RS767631485 PDYN Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 23, Spinocerebellar ataxia type 23
RS767631662 ABCA4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767631739 TSEN54 Health Risk Conflicting classifications of pathogenicity Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia
RS767632593 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Familial isolated arrhythmogenic right ventricular dysplasia
RS767633598 UNC80 Health Risk Pathogenic/Likely pathogenic Hypotonia, infantile
RS767633741 PALB2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS767634441 SCO2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
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