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
RS756135837 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS756136465 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS756136593 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS756136933 NAGA Health Risk Pathogenic Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 1
RS756137377 IFNAR1 Health Risk Likely pathogenic —
RS756138074 RYR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RYR1-related disorder
RS756140322 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS756140557 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS756140957 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS756141692 COASY Health Risk Conflicting classifications of pathogenicity See cases, Neurodegeneration with brain iron accumulation 6
RS756141940 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS756142773 DEPDC5 Health Risk Conflicting classifications of pathogenicity Familial focal epilepsy with variable foci, Inborn genetic diseases
RS756143337 MYT1L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756143769 POC1B Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 20, Cone-rod dystrophy 20
RS756145065 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS756145453 TRIOBP Health Risk Pathogenic/Likely pathogenic Hearing impairment, Hearing impairment
RS756146889 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS756147087 CDH23 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 12, Sensorineural hearing loss disorder
RS756149444 VPS13C Health Risk Pathogenic/Likely pathogenic —
RS756150298 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS756151512 HMOX1 Health Risk Pathogenic Heme oxygenase 1 deficiency, Heme oxygenase 1 deficiency
RS756151664 G6PC1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS756151764 F7 Health Risk Pathogenic Congenital factor VII deficiency, F7-related disorder
RS756152752 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS756152942 PCARE Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa
RS756153007 DNAAF11 Health Risk Likely pathogenic Primary ciliary dyskinesia 19, Primary ciliary dyskinesia 19
RS756153152 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS756153541 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS756154211 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS756154596 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS756155224 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS756155242 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS756155678 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS756155710 VEGFA Health Risk Likely pathogenic —
RS756156581 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS756156901 GLI3 Health Risk Conflicting classifications of pathogenicity Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS756156987 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS756158170 KRIT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cerebral cavernous malformation
RS756158801 NPHS1 Health Risk Conflicting classifications of pathogenicity Congenital nephrotic syndrome, NPHS1-related disorder
RS756158809 SLC6A19 Health Risk Conflicting classifications of pathogenicity Neutral 1 amino acid transport defect, Neutral 1 amino acid transport defect
RS756159043 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Inborn genetic diseases
RS756159737 SCN5A Health Risk Pathogenic/Likely pathogenic Cardiac arrhythmia, Cardiovascular phenotype
RS756160039 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 15
RS756160145 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS756160533 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS756161883 LIFR Health Risk Conflicting classifications of pathogenicity Stuve-Wiedemann syndrome, Stuve-Wiedemann syndrome
RS756162358 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS756163471 SLC2A2 Health Risk Likely pathogenic —
RS756164478 VMA22 Health Risk Pathogenic —
RS756165637 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS756166032 HK1 Health Risk Conflicting classifications of pathogenicity Hemolytic anemia due to hexokinase deficiency, Hemolytic anemia due to hexokinase deficiency
RS756167741 GAS1 Health Risk Conflicting classifications of pathogenicity —
RS756169949 PNKP Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS756170729 PCNT Health Risk Pathogenic —
RS756170824 MAK Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS756171105 CEP104 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 25, Melanoma
RS756171491 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS756171835 GRM6 Health Risk Conflicting classifications of pathogenicity —
RS756172609 CNGA3 Health Risk Pathogenic/Likely pathogenic Achromatopsia 2, Achromatopsia 2
RS756172692 ADCY5 Health Risk Pathogenic Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia
RS756173225 SFXN4 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
RS756173722 COL7A1 Health Risk Pathogenic Epidermolysis bullosa, Epidermolysis bullosa
RS756174213 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS756175126 SIAE Health Risk Conflicting classifications of pathogenicity —
RS756175624 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS756176112 TTN Health Risk Likely pathogenic Myopathy, myofibrillar
RS75617691 A2ML1 Health Risk Conflicting classifications of pathogenicity A2ML1-related disorder, A2ML1-related disorder
RS756179543 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Piebaldism
RS756180389 KIF11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756180801 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS756181133 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS756181827 SMAD3 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Aneurysm-osteoarthritis syndrome
RS756181906 TBC1D24 Health Risk Likely pathogenic Inborn genetic diseases, Developmental and epileptic encephalopathy
RS756181994 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS756182263 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS756182448 CTNS Health Risk Pathogenic Cystinosis, Cystinosis
RS756182598 ZMIZ1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756182703 SLC25A13 Health Risk Pathogenic Citrin deficiency, Citrin deficiency
RS756182817 SCN11A Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement
RS756183569 TRAF5 Health Risk Likely pathogenic Multiple myeloma, Multiple myeloma
RS756185275 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS756185743 TRPV4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2C, Inborn genetic diseases
RS756190836 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS756190979 MSH3 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS756192072 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type B
RS756192515 DNAJC19 Health Risk Conflicting classifications of pathogenicity 3-methylglutaconic aciduria type 5, 3-methylglutaconic aciduria type 5
RS756192655 RAG2 Health Risk Likely pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS756193571 HARS1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 3B, Usher syndrome type 3B
RS756193716 PEX12 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS756193988 RELN Health Risk Conflicting classifications of pathogenicity Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS756194499 COL11A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756195113 PIGB Health Risk Pathogenic —
RS756195409 BMPR2 Health Risk Conflicting classifications of pathogenicity Primary pulmonary hypertension, Pulmonary hypertension
RS756195450 SNRNP200 Health Risk Conflicting classifications of pathogenicity SNRNP200-related disorder, SNRNP200-related disorder
RS756195567 POU4F3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 15, POU4F3-related disorder
RS756195708 MMAB Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria, cblB type
RS756197350 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS756197388 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS756197493 CEP290 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Joubert syndrome
RS756198077 POT1 Health Risk Pathogenic/Likely pathogenic Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
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