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
RS750331066 INPP5E Health Risk Conflicting classifications of pathogenicity Joubert syndrome 1, Joubert syndrome
RS750331217 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS750331613 GRID2 Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 18, Autosomal recessive spinocerebellar ataxia 18
RS750332447 NPHS2 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 2
RS750334480 DOCK7 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 23
RS750335388 RAI1 Health Risk Pathogenic —
RS750335577 SOD1 Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS750336865 COL7A1 Health Risk Conflicting classifications of pathogenicity —
RS750337451 MET Health Risk Conflicting classifications of pathogenicity Osteofibrous dysplasia, Hereditary cancer-predisposing syndrome
RS750338004 STAT2 Health Risk Conflicting classifications of pathogenicity Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Inborn genetic diseases
RS750338018 CYP19A1 Health Risk Likely pathogenic —
RS750338419 IFT172 Health Risk Pathogenic/Likely pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 10 with or without polydactyly
RS750339037 MTHFR Health Risk Likely pathogenic Neural tube defects, folate-sensitive
RS750340477 PRPF31 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 11, Retinal dystrophy
RS75034086 CHSY1 Health Risk Conflicting classifications of pathogenicity Temtamy preaxial brachydactyly syndrome, Inborn genetic diseases
RS750341436 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS750342865 CD46 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome
RS750343039 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS750343121 LRPPRC Health Risk Pathogenic/Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS750343369 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS750344996 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS750345068 DHCR7 Health Risk Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS750345987 COL4A4 Health Risk Pathogenic Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome
RS750346186 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS750349082 XYLT2 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Osteogenesis imperfecta
RS750349088 KCNE1 Health Risk Likely pathogenic Long QT syndrome 5, Long QT syndrome 5
RS750349377 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RAI1-related disorder
RS750349613 DMD Health Risk Likely pathogenic Primary familial hypertrophic cardiomyopathy, Duchenne muscular dystrophy
RS750350372 BARD1 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS750350575 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 11
RS750350692 WDR62 Health Risk Conflicting classifications of pathogenicity Microcephaly 2, primary
RS750353040 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS750353391 RHOBTB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750353606 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS750354456 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Inborn genetic diseases
RS750354519 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-Related Spectrum Disorders
RS750355280 MPDZ Health Risk Likely pathogenic Hydrocephalus, nonsyndromic
RS750355699 SMAD4 Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
RS750356247 DYSF Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2B, Distal myopathy with anterior tibial onset
RS750357326 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS750357369 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS750358148 MYO7A Health Risk Pathogenic/Likely pathogenic Usher syndrome, Autosomal recessive nonsyndromic hearing loss 2
RS750359968 SAMHD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Aicardi-Goutieres syndrome 5
RS750360032 UBE3B Health Risk Pathogenic/Likely pathogenic Oculocerebrofacial syndrome, Kaufman type
RS75036167 SLC7A9 Health Risk Conflicting classifications of pathogenicity Cystinuria, Cystinuria
RS750362154 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Familial Mediterranean fever
RS750362416 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS750362675 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS750363004 BTD Health Risk Pathogenic/Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS750363970 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS750364111 SCN4A Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 16, Paramyotonia congenita of Von Eulenburg
RS750364303 BUB1B Health Risk Pathogenic Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1
RS750364485 VWF Health Risk Pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS750364705 SCN1A Health Risk Pathogenic Early-infantile DEE, Developmental and epileptic encephalopathy
RS750365180 SLC26A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS750366331 MSH3 Health Risk Pathogenic Endometrial carcinoma, Hereditary cancer-predisposing syndrome
RS750367160 ZC4H2 Health Risk Likely pathogenic Wieacker-Wolff syndrome, Wieacker-Wolff syndrome
RS750368181 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS750368565 PHGDH Health Risk Pathogenic PHGDH deficiency, PHGDH deficiency
RS750368652 DOLK Health Risk Conflicting classifications of pathogenicity DK1-congenital disorder of glycosylation, Cardiovascular phenotype
RS750368911 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS750368946 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Usher syndrome
RS750369135 KIZ Health Risk Likely pathogenic Retinitis pigmentosa 69, Retinitis pigmentosa 69
RS750371292 TSFM Health Risk Pathogenic/Likely pathogenic Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
RS750371433 SLX4 Health Risk Likely pathogenic Fanconi anemia complementation group P, Fanconi anemia
RS750371878 HACE1 Health Risk Pathogenic Spastic paraplegia-severe developmental delay-epilepsy syndrome, Seizure
RS750372409 SUMF1 Health Risk Conflicting classifications of pathogenicity Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS750372510 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS750373166 CNGB1 Health Risk Likely pathogenic Retinitis pigmentosa 45, Retinitis pigmentosa 45
RS750373262 NPHS2 Health Risk Pathogenic/Likely pathogenic Nephrotic syndrome, type 2
RS750373573 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS750373957 CAVIN1 Health Risk Conflicting classifications of pathogenicity Congenital generalized lipodystrophy type 4, CAVIN1-related disorder
RS750374337 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37
RS750374521 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS750374714 FREM1 Health Risk Conflicting classifications of pathogenicity Oculotrichoanal syndrome, Oculotrichoanal syndrome
RS750375727 SHOX Health Risk Conflicting classifications of pathogenicity SHOX-related disorder, SHOX-related disorder
RS750375741 NBN Health Risk Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS750376392 MEIOB Health Risk Pathogenic Spermatogenic failure 22, Premature ovarian failure 23
RS750377065 OCRL Health Risk Conflicting classifications of pathogenicity Lowe syndrome, Lowe syndrome
RS750377910 AP3B1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS750380279 SDHA Health Risk Pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS750381200 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS750381445 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS750381568 DMAP1 Health Risk Likely pathogenic Intellectual disability, Abnormal facial shape
RS750381895 MTRR Health Risk Conflicting classifications of pathogenicity Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE
RS750383066 SUZ12 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Imagawa-Matsumoto syndrome
RS750383461 LDLRAP1 Health Risk Pathogenic Hypercholesterolemia, familial
RS750383545 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome 3
RS750383681 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS750384225 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS750384699 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS750385844 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS750386872 RELN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Norman-Roberts syndrome
RS750388638 LAMA3 Health Risk Likely pathogenic —
RS750388794 SUCLG1 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 9, Melanoma
RS750389762 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS750390186 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS750390328 LIG4 Health Risk Conflicting classifications of pathogenicity DNA ligase IV deficiency, Inborn genetic diseases
RS750390370 SOX11 Health Risk Conflicting classifications of pathogenicity —
RS750393216 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
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