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
RS556834250 DOK7 Health Risk Pathogenic Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS556840308 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Inborn genetic diseases
RS556849969 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS55685423 CHRNB2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 3, Autosomal dominant nocturnal frontal lobe epilepsy
RS556862476 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS556868058 TRRAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, TRRAP-related disorder
RS556869079 WDR19 Health Risk Pathogenic Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS556872918 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS556875684 MFSD8 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Inborn genetic diseases
RS55687573 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group C, Fanconi anemia complementation group C
RS55687637 VWF Health Risk Conflicting classifications of pathogenicity Hereditary von Willebrand disease, von Willebrand disease type 1
RS556881504 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS556882699 USH2A Health Risk Pathogenic —
RS556886570 JPH2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS556887600 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS55688805 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, MYO15A-related disorder
RS55688870 RUFY4 Health Risk Conflicting classifications of pathogenicity —
RS55689095 BRCA2 Health Risk Conflicting classifications of pathogenicity Malignant tumor of breast, Breast-ovarian cancer
RS556892787 SARS2 Health Risk Conflicting classifications of pathogenicity Hyperuricemia, pulmonary hypertension
RS55689343 FGFR2 Health Risk Conflicting classifications of pathogenicity Craniosynostosis syndrome, Saethre-Chotzen syndrome
RS556893466 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS556893517 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS556897484 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS556901417 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Holoprosencephaly 7
RS556910528 EVC2 Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS556913973 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS556914502 CUL3 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2E, Pseudohypoaldosteronism type 2E
RS556916354 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Cardiovascular phenotype
RS556917839 DNAJC21 Health Risk Pathogenic Bone marrow failure syndrome 3, Bone marrow failure syndrome 3
RS556925652 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Sensory ataxic neuropathy
RS556930902 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS556931606 RAB23 Health Risk Conflicting classifications of pathogenicity Carpenter syndrome, RAB23-related Carpenter syndrome
RS556931817 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS55693364 SLC2A1 Health Risk Conflicting classifications of pathogenicity GLUT1 deficiency syndrome 1, autosomal recessive
RS556936569 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS55693709 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS556940270 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS556943368 ITPR1 Health Risk Likely pathogenic —
RS556945561 PHKG2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXc, Glycogen storage disease IXc
RS556948427 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Tibial muscular dystrophy
RS55695051 STRADA Health Risk Pathogenic Self-limited epilepsy with centrotemporal spikes, Self-limited epilepsy with centrotemporal spikes
RS556958354 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Wiskott-Aldrich syndrome
RS556959034 MARVELD2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 49, Autosomal recessive nonsyndromic hearing loss 49
RS556959164 SLC25A22 Health Risk Conflicting classifications of pathogenicity Early myoclonic encephalopathy, Early-infantile DEE
RS55696153 TTN Health Risk Likely pathogenic Early-onset myopathy with fatal cardiomyopathy, Cardiovascular phenotype
RS556967635 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS55697431 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS556977377 CHD8 Health Risk Pathogenic Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly
RS556977618 MMACHC Health Risk Pathogenic/Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS55698015 ERCC6 Health Risk Conflicting classifications of pathogenicity ERCC6-related disorder, ERCC6-related disorder
RS556991020 TBX18 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS556993869 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS556999563 DNAJB6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
RS557004700 MERTK Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS557012154 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS557015233 LPL Health Risk Conflicting classifications of pathogenicity Hyperlipoproteinemia, type I
RS557017447 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS557019144 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS557020239 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS557021652 FANCE Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS557023458 C6 Health Risk Pathogenic/Likely pathogenic Complement component 6 deficiency, C6-related disorder
RS55702495 CHAT Health Risk Conflicting classifications of pathogenicity Familial infantile myasthenia, Familial infantile myasthenia
RS557025834 ANKRD11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KBG syndrome
RS557038070 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome 9, Meckel syndrome
RS55704151 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS557041940 OPA3 Health Risk Conflicting classifications of pathogenicity Optic atrophy 3, 3-Methylglutaconic aciduria type 3
RS557043245 P2RY12 Health Risk Conflicting classifications of pathogenicity —
RS557044760 BSCL2 Health Risk Pathogenic Congenital generalized lipodystrophy type 2, Congenital generalized lipodystrophy type 2
RS557047531 RAG2 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency, autosomal recessive
RS55704830 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myopathy
RS557048986 WFS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cataract 41
RS557049479 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS557049566 FN1 Health Risk Conflicting classifications of pathogenicity Spondylometaphyseal dysplasia - Sutcliffe type, Glomerulopathy with fibronectin deposits 2
RS557052809 ATP1A3 Health Risk Pathogenic Dystonia 12, Dystonia 12
RS557057587 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS55705857 CCDC26 Health Risk risk factor Glioma susceptibility 7, Glioma susceptibility 7
RS557058818 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS557063759 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS55706546 FN1 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Glomerulopathy with fibronectin deposits 2
RS557085910 MATR3 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 21, Amyotrophic lateral sclerosis type 21
RS55708915 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS557096550 FKTN Health Risk Pathogenic Dilated cardiomyopathy 1X, Dilated cardiomyopathy 1X
RS557097410 DHCR7 Health Risk Pathogenic Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS557105262 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS557106858 NDUFA10 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex I deficiency
RS557113034 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS55711326 FOXP3 Health Risk Conflicting classifications of pathogenicity Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
RS557113294 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS557118570 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS557119336 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS557120711 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS55712212 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS557125278 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS557125328 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS55712755 UPF3B Health Risk Conflicting classifications of pathogenicity Syndromic X-linked intellectual disability 14, Syndromic X-linked intellectual disability 14
RS557128093 ECHS1 Health Risk Pathogenic/Likely pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS557128345 WDR72 Health Risk Pathogenic Amelogenesis imperfecta hypomaturation type 2A3, Renal tubular acidosis
RS55713856 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS557147929 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS557150117 GOT2 Health Risk Conflicting classifications of pathogenicity —
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