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
RS757678409 ABCA4 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, Retinitis pigmentosa
RS757679199 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Malignant tumor of breast
RS757679627 SLC6A19 Health Risk Likely pathogenic Neutral 1 amino acid transport defect, Neutral 1 amino acid transport defect
RS757679761 SPTA1 Health Risk Conflicting classifications of pathogenicity Elliptocytosis 2, Pyropoikilocytosis
RS757680080 ITGA7 Health Risk Pathogenic/Likely pathogenic Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS757680081 COL4A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757680292 RNF43 Health Risk Conflicting classifications of pathogenicity —
RS757681143 PYGM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type V
RS757681429 ADGRE2 Health Risk Conflicting classifications of pathogenicity —
RS757681601 LCA5 Health Risk Likely pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS757682374 FAH Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS757682666 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS757683069 LRP5 Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS757683184 GFM2 Health Risk Conflicting classifications of pathogenicity —
RS757683917 TNFRSF10B Health Risk Likely pathogenic Squamous cell carcinoma of the head and neck, Squamous cell carcinoma of the head and neck
RS757684181 GSN Health Risk Conflicting classifications of pathogenicity Finnish type amyloidosis, Inborn genetic diseases
RS757684373 NEU1 Health Risk Conflicting classifications of pathogenicity Sialidosis type 2, Sialidosis type 2
RS757685298 MCOLN1 Health Risk Pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS757688146 ATRIP Health Risk Conflicting classifications of pathogenicity —
RS757688183 COL4A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome, Benign familial hematuria
RS75768822 COL22A1 Health Risk Conflicting classifications of pathogenicity —
RS757688782 COL7A1 Health Risk Pathogenic Transient bullous dermolysis of the newborn, Epidermolysis bullosa dystrophica inversa
RS757689264 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHD7-related disorder
RS757690372 WDR72 Health Risk Likely pathogenic Amelogenesis imperfecta hypomaturation type 2A3, Amelogenesis imperfecta hypomaturation type 2A3
RS757691235 SPECC1L Health Risk Conflicting classifications of pathogenicity —
RS757691557 GFM1 Health Risk Pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS757691558 MRE11 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS757693213 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS757693457 ABCB4 Health Risk Pathogenic/Likely pathogenic Cholestasis, intrahepatic
RS757694282 NKX2-1 Health Risk Likely pathogenic Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome
RS757696693 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS757696771 ADGRV1 Health Risk Pathogenic Usher syndrome type 2C, Febrile seizures
RS757697462 DHCR7 Health Risk Pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS757697856 RS1 Health Risk Likely pathogenic Juvenile retinoschisis, Juvenile retinoschisis
RS757699239 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS757699303 GJB2 Health Risk Pathogenic —
RS757700700 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS757700986 RAF1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 5, Dilated cardiomyopathy 1NN
RS757701006 KANK4 Health Risk Conflicting classifications of pathogenicity KANK4-related disorder, KANK4-related disorder
RS757701609 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS757702954 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS757703206 CFAP91 Health Risk Likely pathogenic Spermatogenic failure 51, Spermatogenic failure 51
RS757704367 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS757704417 DCDC2 Health Risk Pathogenic Nephronophthisis 19, Isolated neonatal sclerosing cholangitis
RS757704473 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, ALDH7A1-related disorder
RS757704778 ALS2 Health Risk Conflicting classifications of pathogenicity Infantile-onset ascending hereditary spastic paralysis, Inborn genetic diseases
RS757704897 SMARCAL1 Health Risk Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS757706428 SNORD118 Health Risk Pathogenic Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts
RS757706998 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS757707458 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS757708154 EPB41L1 Health Risk Conflicting classifications of pathogenicity —
RS757708595 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS757708948 OTOF Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS757710217 DENND5A Health Risk Pathogenic —
RS757710808 CCT2 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis, Leber congenital amaurosis
RS757711419 DEAF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757712173 CTSD Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 10
RS757712371 NGLY1 Health Risk Pathogenic/Likely pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation 1
RS757713207 LIPT1 Health Risk Conflicting classifications of pathogenicity —
RS757713617 GRIN2A Health Risk Pathogenic/Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS757713867 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS757713931 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS757714144 RPGR Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS757714479 SLC34A3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive hypophosphatemic bone disease, SLC34A3-related disorder
RS757714964 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS757715357 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS757715378 COL7A1 Health Risk Pathogenic/Likely pathogenic Epidermolysis bullosa dystrophica, COL7A1-related disorder
RS757716093 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS757716138 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS757717459 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS757717527 NDUFS7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757718008 PHKA2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXa1, Inborn genetic diseases
RS757718124 POLR3A Health Risk Conflicting classifications of pathogenicity POLR3A-related disorder, POLR3A-related disorder
RS757718519 RANBP2 Health Risk Conflicting classifications of pathogenicity Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy
RS757719808 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS757720012 POMC Health Risk Likely pathogenic —
RS757721869 PHIP Health Risk Likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS757722513 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS757722767 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS757724544 NMNAT1 Health Risk Likely pathogenic Leber congenital amaurosis 9, Leber congenital amaurosis 9
RS757725009 COX15 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Leigh syndrome
RS757725348 DYNC1H1 Health Risk Pathogenic/Likely pathogenic Lissencephaly, Spinal muscular atrophy with lower extremity predominance
RS757725696 TULP1 Health Risk Pathogenic Retinitis pigmentosa 14, TULP1-related disorder
RS757726053 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS757726526 RELN Health Risk Conflicting classifications of pathogenicity Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS757726608 DSP Health Risk Conflicting classifications of pathogenicity Woolly hair-skin fragility syndrome, Arrhythmogenic right ventricular dysplasia 8
RS757726895 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS757726987 FLG Health Risk Pathogenic —
RS757727533 PRKAG2 Health Risk Conflicting classifications of pathogenicity Wolff-Parkinson-White pattern, Lethal congenital glycogen storage disease of heart
RS75772824 NALCN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, NALCN-related disorder
RS757728994 CDH3 Health Risk Pathogenic —
RS757729851 ASNS Health Risk Pathogenic/Likely pathogenic Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
RS757730609 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS757731487 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Orofacial cleft 1
RS757731660 MARS2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 25, Combined oxidative phosphorylation defect type 25
RS757731931 HNF4A Health Risk Likely pathogenic Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease
RS757733033 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS757733319 CHAT Health Risk Conflicting classifications of pathogenicity Familial infantile myasthenia, Familial infantile myasthenia
RS757734525 MAGEL2 Health Risk Conflicting classifications of pathogenicity —
RS757735135 ELAC2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 17, Inborn genetic diseases
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