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
RS765575912 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS765576835 FANCD2 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group D2
RS765576893 TYK2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Immunodeficiency 35
RS765577023 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS765577483 MCOLN1 Health Risk Pathogenic/Likely pathogenic Mucolipidosis type IV, Lisch epithelial corneal dystrophy
RS765577880 AAAS Health Risk Pathogenic Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia
RS765578315 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS765578621 CHD3 Health Risk Likely pathogenic Snijders Blok-Campeau syndrome, Snijders Blok-Campeau syndrome
RS765578870 CREBBP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Rubinstein-Taybi syndrome
RS765578993 SLC25A38 Health Risk Conflicting classifications of pathogenicity Sideroblastic anemia 2, Sideroblastic anemia 2
RS765579667 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS765580991 ABCC2 Health Risk Pathogenic —
RS765581751 CACNA1C Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS765581827 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS765583923 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypobetalipoproteinemia, Hypercholesterolemia
RS765584669 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS765584733 PDGFRB Health Risk Conflicting classifications of pathogenicity Infantile myofibromatosis, Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
RS765586205 MTHFR Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects
RS765587517 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Patterned macular dystrophy 2
RS765587923 NAXE Health Risk Pathogenic Encephalopathy, progressive
RS765589827 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS765590257 KCNJ10 Health Risk Conflicting classifications of pathogenicity EAST syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS765591205 MME Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2T, Charcot-Marie-Tooth disease axonal type 2T
RS765591278 FKRP Health Risk Likely pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS765592025 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS76559205 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS765592794 ANO10 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 10, Uterine corpus endometrial carcinoma
RS765593474 POU3F4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, POU3F4-related disorder
RS765594825 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiomyopathy
RS765595608 ALDH5A1 Health Risk Pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS765596348 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Inborn genetic diseases
RS765596650 HNF1A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS765597017 MIB1 Health Risk Likely pathogenic —
RS765597431 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS765598128 TMEM240 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765598266 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS765598479 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS765600316 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Inborn genetic diseases
RS765602610 PROM1 Health Risk Conflicting classifications of pathogenicity —
RS765602627 LIFR Health Risk Pathogenic/Likely pathogenic Stüve-Wiedemann syndrome 1, Stüve-Wiedemann syndrome 1
RS765602803 HSD3B2 Health Risk Pathogenic —
RS765603040 ALAS2 Health Risk Conflicting classifications of pathogenicity X-linked sideroblastic anemia 1, X-linked sideroblastic anemia 1
RS765604322 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS765604641 BRWD3 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 93
RS765605645 GJB3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 2B, Autosomal dominant nonsyndromic hearing loss 2B
RS765607332 PSAP Health Risk Pathogenic Sphingolipid activator protein 1 deficiency, Sphingolipid activator protein 1 deficiency
RS765608680 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS765609390 COL11A2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 13, Autosomal dominant nonsyndromic hearing loss 13
RS765609579 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS765609971 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS765610106 ANKRD26 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765610436 CHD7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765610535 ASPH Health Risk Pathogenic/Likely pathogenic Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome, Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
RS765610848 SQSTM1 Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2
RS765611426 CAD Health Risk Pathogenic —
RS765612030 HIVEP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765612286 PYGM Health Risk Conflicting classifications of pathogenicity PYGM-related disorder, Glycogen storage disease
RS765613378 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS765613848 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS765613900 ASPM Health Risk Pathogenic —
RS765613977 AAAS Health Risk Pathogenic/Likely pathogenic Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia
RS765613994 DCDC2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis
RS765614514 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS765615419 FGFR1 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
RS765616473 CUBN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, CUBN-related disorder
RS765617846 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS765618026 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS765619483 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS765619817 LAMA1 Health Risk Conflicting classifications of pathogenicity —
RS765621362 LARS2 Health Risk Likely pathogenic —
RS765622092 FRAS1 Health Risk Pathogenic/Likely pathogenic Fraser syndrome 1, Fraser syndrome 1
RS765622323 LIFR Health Risk Pathogenic/Likely pathogenic Stuve-Wiedemann syndrome, Stüve-Wiedemann syndrome 1
RS765622787 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS765625076 MAGEL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765626502 CEP152 Health Risk Pathogenic —
RS765627299 BAG3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1HH
RS765627692 MCPH1 Health Risk Pathogenic See cases, See cases
RS765628474 COL10A1 Health Risk Conflicting classifications of pathogenicity Metaphyseal chondrodysplasia, Schmid type
RS765628527 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS765628635 TDRD7 Health Risk Pathogenic Cataract 36, Cataract 36
RS765629130 BARD1 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS765629644 FH Health Risk Conflicting classifications of pathogenicity Hereditary leiomyomatosis and renal cell cancer, Fumarase deficiency
RS765630867 CEP104 Health Risk Pathogenic Joubert syndrome 25, Joubert syndrome 25
RS765630970 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS765631918 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS765632065 ATP13A2 Health Risk Pathogenic/Likely pathogenic Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS765632713 DPF2 Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome 7, Coffin-Siris syndrome 7
RS765632800 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS765633380 GBA1 Health Risk Conflicting classifications of pathogenicity Gaucher disease type I, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
RS765633648 FRMPD4 Health Risk Conflicting classifications of pathogenicity FRMPD4-related disorder, FRMPD4-related disorder
RS765634975 KIF1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hereditary spastic paraplegia 30
RS765635417 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS765636779 PRF1 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Inborn genetic diseases
RS765636819 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS765639766 EEFSEC Health Risk Likely pathogenic Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly, Neurodevelopmental disorder with progressive spasticity and brain abnormalities
RS765640131 ASPM Health Risk Pathogenic —
RS765641195 LRSAM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS765641686 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS765641913 NLRC4 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 4, Periodic fever-infantile enterocolitis-autoinflammatory syndrome
RS765641981 XPC Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum, group C
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