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
RS753404579 SLC6A5 Health Risk Conflicting classifications of pathogenicity Hyperekplexia 3, Inborn genetic diseases
RS753406334 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS753406968 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB
RS753407699 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS753408207 KCNMA1 Health Risk Pathogenic Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS753408470 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS753408975 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753409626 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS753410045 POLG Health Risk Likely pathogenic Mitochondrial disease, Progressive sclerosing poliodystrophy
RS753411855 PDSS1 Health Risk Conflicting classifications of pathogenicity PDSS1-related disorder, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
RS753412782 COL4A2 Health Risk Conflicting classifications of pathogenicity Hemorrhage, intracerebral
RS753413229 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS753414156 EARS2 Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Arthrogryposis multiplex congenita
RS753414360 SLC25A20 Health Risk Pathogenic Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS753415648 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS753416225 POLG Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Progressive sclerosing poliodystrophy
RS753416246 ANO5 Health Risk Conflicting classifications of pathogenicity Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS753416812 GDF6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Leber congenital amaurosis 17
RS753416949 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS753417634 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS753417741 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS753419037 TYRP1 Health Risk Pathogenic —
RS753419932 NFKBIA Health Risk Conflicting classifications of pathogenicity Ectodermal dysplasia and immunodeficiency 2, Inborn genetic diseases
RS753419933 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS753420441 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS753420499 DIAPH1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
RS753420538 ABCB4 Health Risk Pathogenic ABCB4-related disorder, Progressive familial intrahepatic cholestasis type 3
RS753421728 CHRNG Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, CHRNG-related disorder
RS753422002 LARP1 Health Risk Conflicting classifications of pathogenicity —
RS753422559 HFM1 Health Risk Pathogenic Spermatogenic failure 4, Spermatogenic failure 4
RS753422696 ZNF462 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Weiss-Kruszka syndrome
RS753423216 USH2A Health Risk Likely pathogenic —
RS753423696 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS753424622 SORD Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS753425281 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS753425376 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS753425379 DDX41 Health Risk Pathogenic/Likely pathogenic DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases
RS753426087 MYT1L Health Risk Likely pathogenic Intellectual disability, autosomal dominant 39
RS753426920 ZFYVE26 Health Risk Pathogenic Hereditary spastic paraplegia 15, Spastic paraplegia
RS753428817 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS753428914 FANCC Health Risk Conflicting classifications of pathogenicity —
RS753429934 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS753432312 ARMC9 Health Risk Pathogenic/Likely pathogenic ARMC9-related Joubert syndrome, Joubert syndrome 30
RS753433375 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS753433733 RTEL1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 5
RS753435051 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2O
RS753435616 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8
RS753436021 PROC Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein C deficiency, autosomal dominant
RS753436106 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS753436594 DOK7 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS753436679 UNC93B1 Health Risk Pathogenic Herpes simplex encephalitis, susceptibility to
RS753437190 COL4A5 Health Risk Likely pathogenic —
RS753437319 NEK9 Health Risk Pathogenic —
RS753437612 BEST1 Health Risk Likely pathogenic —
RS753438460 CPAMD8 Health Risk Likely pathogenic Anterior segment dysgenesis 8, Anterior segment dysgenesis 8
RS753439477 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS753440039 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS753440254 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS753440288 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS753441944 HERC1 Health Risk Conflicting classifications of pathogenicity Macrocephaly, dysmorphic facies
RS753442104 TNXB Health Risk Pathogenic —
RS753443203 MCCC2 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS753443586 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS753444140 MYH6 Health Risk Conflicting classifications of pathogenicity Primary familial dilated cardiomyopathy, Hypertrophic cardiomyopathy 14
RS753444593 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS753444772 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS753445027 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS753446252 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS753448581 HAX1 Health Risk Conflicting classifications of pathogenicity Kostmann syndrome, Inborn genetic diseases
RS753450456 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS753451110 CTNS Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Ocular cystinosis
RS753451325 FBXO11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753452195 BCKDHA Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS753452987 ITGB2 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency 1, Inborn genetic diseases
RS753453769 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Potassium-aggravated myotonia
RS753454744 NAGLU Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-B
RS753455319 CSF2RA Health Risk Pathogenic Surfactant metabolism dysfunction, pulmonary
RS753455443 TBX19 Health Risk Pathogenic Congenital isolated adrenocorticotropic hormone deficiency, Congenital isolated adrenocorticotropic hormone deficiency
RS753455828 SLC5A2 Health Risk Likely pathogenic SLC5A2-related disorder, SLC5A2-related disorder
RS753456838 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS753456938 FN1 Health Risk Pathogenic Spondylometaphyseal dysplasia - Sutcliffe type, Spondylometaphyseal dysplasia - Sutcliffe type
RS753457121 XRCC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS753458507 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Regional enteritis
RS753459089 CTRC Health Risk Pathogenic Hereditary pancreatitis, Hereditary pancreatitis
RS753459308 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS753459440 CLCN7 Health Risk Conflicting classifications of pathogenicity Osteopetrosis, Osteopetrosis
RS753460205 ZNF335 Health Risk Pathogenic/Likely pathogenic Microcephalic primordial dwarfism due to ZNF335 deficiency, Microcephalic primordial dwarfism due to ZNF335 deficiency
RS753460351 NSD1 Health Risk Conflicting classifications of pathogenicity —
RS753460621 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS753460994 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS753461493 CEP63 Health Risk Pathogenic —
RS753461513 COL27A1 Health Risk Pathogenic Steel syndrome, Steel syndrome
RS753461570 RAI1 Health Risk Conflicting classifications of pathogenicity —
RS753461919 MMUT Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
RS753462162 SYCP2 Health Risk Pathogenic/Likely pathogenic Oligosynaptic infertility, Spermatocyte maturation arrest
RS753463683 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS753464560 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS753466496 SLC12A6 Health Risk Conflicting classifications of pathogenicity Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS753467037 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS753467156 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
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