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
RS748005956 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS748006253 AQP2 Health Risk Pathogenic —
RS748006255 FANCD2 Health Risk Likely pathogenic Fanconi anemia complementation group D2, Fanconi anemia complementation group D2
RS748006260 NEDD4L Health Risk Conflicting classifications of pathogenicity Intellectual disability, Intellectual disability
RS748006603 TYK2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Immunodeficiency 35
RS748007203 CRPPA Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS748007443 USH2A Health Risk Conflicting classifications of pathogenicity —
RS748007618 TBK1 Health Risk Pathogenic/Likely pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
RS748007790 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS748007891 MYO18B Health Risk Pathogenic/Likely pathogenic MYO18B-related disorder, MYO18B-related disorder
RS748008197 SLC10A1 Health Risk Likely pathogenic SLC10A1-related disorder, SLC10A1-related disorder
RS748009402 IFT81 Health Risk Pathogenic —
RS748009590 PC Health Risk Likely pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS748010172 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS748010262 CLPB Health Risk Pathogenic 3-methylglutaconic aciduria, type VIIB
RS748010810 SOX11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS748011297 COL4A4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal recessive Alport syndrome
RS748011724 MCPH1 Health Risk Pathogenic/Likely pathogenic Microcephaly 1, primary
RS748012447 SKIC2 Health Risk Conflicting classifications of pathogenicity Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
RS748012743 NDUFA12 Health Risk Pathogenic —
RS748013805 AHNAK2 Health Risk Conflicting classifications of pathogenicity —
RS748014296 CFAP418 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 64, Retinitis pigmentosa 64
RS748014865 BBS2 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, BBS2-related disorder
RS748016039 MSH3 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS748016341 TUBGCP6 Health Risk Pathogenic —
RS748016594 KIF23 Health Risk Likely pathogenic Microcephaly, Microcephaly
RS748017801 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS748017885 LITAF Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 1C
RS748018297 KANSL1 Health Risk Pathogenic Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS748018742 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS748019294 PGM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS748019757 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS748019972 TAP2 Health Risk Pathogenic MHC class I deficiency, MHC class I deficiency
RS748020048 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS748021245 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS748022092 ALG6 Health Risk Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS748022323 RTEL1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 5
RS748022439 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS748022451 GTPBP3 Health Risk Likely pathogenic —
RS748022488 BICD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, BICD2-related disorder
RS748022925 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS748026507 IVD Health Risk Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS748026747 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS748026887 COL4A3 Health Risk Pathogenic Autosomal recessive Alport syndrome, Alport syndrome
RS748026968 NDUFA11 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 14
RS748027595 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS748028684 MCCC2 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS748029308 DCAF17 Health Risk Likely pathogenic Woodhouse-Sakati syndrome, Papillary renal cell carcinoma type 1
RS748031071 ALPL Health Risk Likely pathogenic Infantile hypophosphatasia, Hypophosphatasia
RS748031178 PTEN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS748032310 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS748032659 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, PEX6-related disorder
RS748032810 KCNV2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS748034053 ACTN2 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA
RS748034744 CEP290 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 5, Retinal dystrophy
RS748035948 COL6A2 Health Risk Pathogenic Ullrich congenital muscular dystrophy 1B, Ullrich congenital muscular dystrophy 1B
RS748036380 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS748036782 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS748036956 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS748037660 SLC6A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Epilepsy with myoclonic atonic seizures
RS748037957 PIGG Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 53
RS748038054 TTN Health Risk Conflicting classifications of pathogenicity TTN-related disorder, Cardiomyopathy
RS748042028 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS748042110 ITPA Health Risk Pathogenic Inosine triphosphatase deficiency, ITPA-related disorder
RS748042738 DNAI1 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS748043014 TBX18 Health Risk Likely pathogenic Congenital anomaly of kidney and urinary tract, Congenital anomaly of kidney and urinary tract
RS748043225 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS748044865 ABCB4 Health Risk Conflicting classifications of pathogenicity ABCB4-related disorder, ABCB4-related disorder
RS748045691 WT1 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, 11p partial monosomy syndrome
RS748046147 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS748046278 NAGS Health Risk Conflicting classifications of pathogenicity Hyperammonemia, type III
RS748046539 TRPM1 Health Risk Likely pathogenic Congenital stationary night blindness, Congenital stationary night blindness
RS748046758 REST Health Risk Conflicting classifications of pathogenicity —
RS748047271 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS748047359 ABCG5 Health Risk Conflicting classifications of pathogenicity Sitosterolemia 2, Sitosterolemia
RS748047522 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS748048179 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS748048642 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS748048928 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Inborn genetic diseases
RS748049105 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS748049143 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS748049681 MOCS2 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Combined molybdoflavoprotein enzyme deficiency
RS748051713 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS748052337 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS748053172 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS748054907 GRIN2B Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 27
RS748055124 TRPM1 Health Risk Pathogenic —
RS748055961 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, See cases
RS748057401 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS748057725 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS748058327 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS748060377 JAG1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alagille syndrome due to a JAG1 point mutation
RS748061846 TBK1 Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
RS748063409 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS748064828 FAT4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS748064845 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS748064846 MED12 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, FG syndrome
RS748065332 MYSM1 Health Risk Pathogenic —
RS748067492 ATR Health Risk Conflicting classifications of pathogenicity Seckel syndrome 1, Seckel syndrome 1
RS748068839 COL27A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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