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
RS765698306 MID1 Health Risk Conflicting classifications of pathogenicity —
RS765698717 SLCO2A1 Health Risk Likely pathogenic Hypertrophic osteoarthropathy, primary
RS765699208 TOP3A Health Risk Conflicting classifications of pathogenicity —
RS765699235 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS765700023 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS765700138 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS765701552 GNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D
RS765702047 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765702142 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS765702241 HSD17B4 Health Risk Pathogenic/Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS765702675 POLE Health Risk Pathogenic —
RS765703079 GABRG2 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE
RS765705070 ADGRV1 Health Risk Likely pathogenic —
RS76570508 CHAT Health Risk Conflicting classifications of pathogenicity Familial infantile myasthenia, Familial infantile myasthenia
RS765706154 DHPS Health Risk Likely pathogenic —
RS765706611 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS765707028 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS765708068 GLRA1 Health Risk Pathogenic Hereditary hyperekplexia, Hereditary hyperekplexia
RS765708087 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS765708710 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Inborn genetic diseases
RS765708759 ABCC8 Health Risk Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus, Hyperinsulinemic hypoglycemia
RS765709669 CEP290 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 10, Bardet-Biedl syndrome 14
RS765709852 SLC13A5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 25
RS765711776 ARSB Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS765712117 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS765714277 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS765714290 RDH5 Health Risk Pathogenic —
RS765715581 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS765715798 ARL6 Health Risk Likely pathogenic Autosomal recessive retinitis pigmentosa, Retinitis pigmentosa 55
RS765716200 ATP8B1 Health Risk Pathogenic/Likely pathogenic Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1
RS765716291 FERMT1 Health Risk Pathogenic Kindler syndrome, Kindler syndrome
RS765718672 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS765718882 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS765719755 CLN6 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS765720584 PKD1L1 Health Risk Likely pathogenic Heterotaxy, visceral
RS765720770 ATL3 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS76572092 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia 1
RS765721076 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Hypokalemic periodic paralysis
RS765721221 TPM1 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS765721350 ABRAXAS1 Health Risk Conflicting classifications of pathogenicity —
RS765723076 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS765723177 PIGO Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS765723196 PSAT1 Health Risk Pathogenic Neu-Laxova syndrome 2, Neu-Laxova syndrome 2
RS765723607 IQSEC1 Health Risk Pathogenic Intellectual developmental disorder with short stature and behavioral abnormalities, Intellectual developmental disorder with short stature and behavioral abnormalities
RS765724086 ERCC3 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, Xeroderma pigmentosum
RS765724768 RHBDF2 Health Risk Conflicting classifications of pathogenicity Palmoplantar keratoderma-esophageal carcinoma syndrome, Inborn genetic diseases
RS765724909 GRIN2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS765725238 RP1 Health Risk Likely pathogenic Retinitis pigmentosa 1, Retinitis pigmentosa 1
RS765725393 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis type 5
RS765726078 MTHFS Health Risk Pathogenic Neurodevelopmental disorder with microcephaly, epilepsy
RS765726949 MMAA Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria, cblA type
RS765727285 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS765728211 HCN1 Health Risk Likely pathogenic —
RS765728562 MYORG Health Risk Likely pathogenic —
RS765728700 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS765729388 FLNB Health Risk Conflicting classifications of pathogenicity —
RS765729481 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS765729710 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS765729815 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS765730332 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS765731318 MECR Health Risk Pathogenic —
RS765731360 MYT1L Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 39
RS765731378 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Genitopatellar syndrome
RS765734959 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS765736023 NKX2-1 Health Risk Pathogenic Brain-lung-thyroid syndrome, NKX2-1-related disorder
RS765736500 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS765736670 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS765737421 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS765738385 SUOX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Sulfite oxidase deficiency
RS765739997 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS765740067 NPHS1 Health Risk Pathogenic —
RS765740144 VARS1 Health Risk Likely pathogenic Neurodevelopmental disorder with microcephaly, seizures
RS765741202 CIB2 Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 48
RS765741574 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS765742255 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS765742357 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS765742496 ETFDH Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS765742613 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS765743471 SCN2B Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS765743651 FBP1 Health Risk Likely pathogenic —
RS765744088 GALK1 Health Risk Conflicting classifications of pathogenicity Deficiency of galactokinase, Deficiency of galactokinase
RS765744298 PSAP Health Risk Pathogenic/Likely pathogenic Metachromatic leukodystrophy, Gaucher disease due to saposin C deficiency
RS765744560 MBD4 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS765745344 UCHL1 Health Risk Conflicting classifications of pathogenicity Parkinson disease 5, autosomal dominant
RS765745700 MED13L Health Risk Conflicting classifications of pathogenicity Dextro-looped transposition of the great arteries, Inborn genetic diseases
RS765746785 TFR2 Health Risk Conflicting classifications of pathogenicity Hemochromatosis type 3, Hereditary hemochromatosis
RS765746795 CHRNG Health Risk Pathogenic Autosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS765746826 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Basal cell carcinoma
RS765746859 IMPDH1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 11, Leber congenital amaurosis 11
RS765747115 CABP4 Health Risk Conflicting classifications of pathogenicity Cone-rod synaptic disorder, congenital nonprogressive
RS765747555 NUBPL Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS765747662 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS765748046 IRF2BPL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS765748845 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS765749224 LIFR Health Risk Pathogenic —
RS765749321 CPSF3 Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, microcephaly
RS765749454 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS765750009 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS765752811 PYROXD1 Health Risk Pathogenic Myofibrillar myopathy 8, Myofibrillar myopathy 8
RS765752936 SPINK5 Health Risk Pathogenic Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
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