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
RS753211296 CSF1R Health Risk Pathogenic —
RS753211496 NFATC1 Health Risk Conflicting classifications of pathogenicity —
RS753211631 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS753212327 KIT Health Risk Pathogenic Cutaneous mastocytosis, Cutaneous mastocytosis
RS753213766 IFNGR1 Health Risk Pathogenic Immunodeficiency 27A, Immunodeficiency 27A
RS753214391 POGZ Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS753214982 GRIA3 Health Risk Conflicting classifications of pathogenicity GRIA3-related disorder, Inborn genetic diseases
RS753215899 NDUFAF2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753216964 BCKDHA Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS753217237 TANC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753217734 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS753218533 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS753220080 COL6A2 Health Risk Likely pathogenic Tip-toe gait, Tip-toe gait
RS753220814 TOR1A Health Risk Likely pathogenic Arthrogryposis multiplex congenita 5, Arthrogryposis multiplex congenita 5
RS753221440 AMT Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS753221489 PNPLA6 Health Risk Pathogenic Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS753221661 UBE3B Health Risk Conflicting classifications of pathogenicity Optic nerve hypoplasia, Oculocerebrofacial syndrome
RS753221956 NLRP2 Health Risk Conflicting classifications of pathogenicity —
RS753223281 EXT2 Health Risk Conflicting classifications of pathogenicity Exostoses, multiple
RS753223319 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, See cases
RS753223955 CDH1 Health Risk Conflicting classifications of pathogenicity Breast and/or ovarian cancer, Hereditary diffuse gastric adenocarcinoma
RS753224594 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS753224880 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS753225356 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS753226272 USH2A Health Risk Pathogenic —
RS753226962 DYRK1A Health Risk Conflicting classifications of pathogenicity DYRK1A-related intellectual disability syndrome, Inborn genetic diseases
RS753227889 NR0B1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Congenital adrenal hypoplasia
RS753228011 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS753229591 PUS3 Health Risk Likely pathogenic Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome, Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
RS753229736 GBP2 Health Risk Likely risk allele Inherited susceptibility to mycobacterial diseases, Inherited susceptibility to mycobacterial diseases
RS753229951 CPAP Health Risk Pathogenic —
RS753230146 STN1 Health Risk Conflicting classifications of pathogenicity Brain disorder, Brain disorder
RS753232669 FUCA1 Health Risk Conflicting classifications of pathogenicity Fucosidosis, Fucosidosis
RS753232747 ATP6V0A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive distal renal tubular acidosis, Renal tubular acidosis
RS753234219 DLD Health Risk Pathogenic Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS753234582 BBS5 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Retinal dystrophy
RS753235037 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS753236073 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS753237278 WFS1 Health Risk Likely pathogenic/Likely risk allele Wolfram syndrome 1, Wolfram syndrome 1
RS753237286 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS753237335 OSGEP Health Risk Pathogenic Galloway-Mowat syndrome 3, Galloway-Mowat syndrome
RS753237615 SHOC2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome-like disorder with loose anagen hair 1, RASopathy
RS753238253 ALG3 Health Risk Conflicting classifications of pathogenicity ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation
RS753239814 FANCB Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS753240054 SGCD Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan
RS753241718 ADGRG1 Health Risk Pathogenic —
RS753241781 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS753242273 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS753242611 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Inborn genetic diseases
RS753242774 DHX30 Health Risk Pathogenic 8 conditions, Neurodevelopmental disorder with severe motor impairment and absent language
RS753243627 SKI Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS753243797 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753244927 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS753245290 EYA1 Health Risk Likely pathogenic —
RS753245626 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Dilated cardiomyopathy 1G
RS753245823 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS753246905 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS753247583 AAGAB Health Risk Likely pathogenic Palmoplantar keratoderma, punctate type 1A
RS753248212 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome
RS753249247 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS753249251 LAMB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Pierson syndrome
RS753249472 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS753249798 HIVEP2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 43
RS753249965 PDX1 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 4, Maturity-onset diabetes of the young type 4
RS753250273 CHRNA1 Health Risk Pathogenic Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS753250735 ZIC2 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 5, Inborn genetic diseases
RS753250848 ANKRD11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KBG syndrome
RS753250853 ATP7B Health Risk Pathogenic Wilson disease, ATP7B-related disorder
RS753252376 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS753254039 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS753254095 CP Health Risk Pathogenic/Likely pathogenic Deficiency of ferroxidase, Deficiency of ferroxidase
RS753254213 COQ8A Health Risk Pathogenic Global developmental delay, Possible mitochondrial disorder - nuclear genes
RS753254231 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS753255221 KMT2C Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 2, Malignant tumor of esophagus
RS753256070 PMS2 Health Risk Pathogenic/Likely pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS753256448 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS753256595 HNRNPU Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 54
RS753256671 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS753256800 KCNQ1 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Jervell and Lange-Nielsen syndrome 1
RS753256966 BCOR Health Risk Conflicting classifications of pathogenicity Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS753257049 SLC26A7 Health Risk Likely pathogenic —
RS753257469 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS753258292 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS75325951 RNASEH2B Health Risk Likely pathogenic Aicardi-Goutieres syndrome 2, Aicardi Goutieres syndrome
RS753260027 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS753260382 ASPM Health Risk Likely pathogenic Microcephaly 5, primary
RS753261451 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS753261578 TCF12 Health Risk Pathogenic —
RS753263342 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS753263522 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS753263747 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS753263924 FRAS1 Health Risk Pathogenic/Likely pathogenic Fraser syndrome 1, Fraser syndrome 1
RS753264426 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia 1
RS753264498 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS753264751 PKHD1 Health Risk Conflicting classifications of pathogenicity PKHD1-related disorder, Polycystic kidney disease 4
RS75326546 RNASEH2B Health Risk Pathogenic/Likely pathogenic Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2
RS753266636 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS753268672 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4
RS753268823 LAMC2 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Epidermolysis bullosa
RS753269119 GAA Health Risk Pathogenic Glycogen storage disease, type II
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