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
RS540755001 CDH23 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS540768941 C1QTNF5;MFRP Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 5, Late-onset retinal degeneration
RS540769784 NUBPL Health Risk Conflicting classifications of pathogenicity —
RS540770153 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Inborn genetic diseases
RS540774973 VDR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Vitamin D-dependent rickets type II with alopecia
RS540792428 SUOX Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS540793556 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS540794663 OTOG Health Risk Conflicting classifications of pathogenicity OTOG-related disorder, Autosomal recessive nonsyndromic hearing loss 18B
RS540795071 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder
RS540799830 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS540804249 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS540805431 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group D2
RS540809976 OTOGL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS540814246 DYNC1I2 Health Risk Pathogenic —
RS540825771 LAMA1 Health Risk Conflicting classifications of pathogenicity —
RS540826492 THBD Health Risk Conflicting classifications of pathogenicity Kidney disorder, Kidney disorder
RS540836199 CCDC141 Health Risk Conflicting classifications of pathogenicity CCDC141-related disorder, CCDC141-related disorder
RS540839115 UBA5 Health Risk Pathogenic Spinocerebellar ataxia, autosomal recessive 24
RS540840413 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS540861763 TBC1D24 Health Risk Conflicting classifications of pathogenicity Familial infantile myoclonic epilepsy, Familial infantile myoclonic epilepsy
RS540865745 LOC126860975;ZMIZ1 Health Risk Likely pathogenic —
RS540868733 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS540878144 AUTS2 Health Risk Conflicting classifications of pathogenicity Syndromic intellectual disability, Syndromic intellectual disability
RS540878199 STAT2 Health Risk Conflicting classifications of pathogenicity Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Inborn genetic diseases
RS540882370 NDUFAF5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS540886080 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS540890590 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS540893860 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Hypertrophic cardiomyopathy 14
RS540895576 COCH Health Risk Pathogenic/Likely pathogenic Hearing loss, autosomal recessive 110
RS540900837 CDC45 Health Risk Conflicting classifications of pathogenicity Meier-Gorlin syndrome 7, Meier-Gorlin syndrome 7
RS540904446 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS540911439 TYR Health Risk Pathogenic Oculocutaneous albinism type 1A, SKIN/HAIR/EYE PIGMENTATION 3
RS540920248 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS540920930 TGFBR2 Health Risk Uncertain significance/Uncertain risk allele Familial thoracic aortic aneurysm and aortic dissection, Diabetic retinopathy
RS540935874 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS540957547 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS540961117 HSPG2 Health Risk Conflicting classifications of pathogenicity HSPG2-related disorder, HSPG2-related disorder
RS540962668 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS540962715 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS540968725 FH Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary cancer-predisposing syndrome
RS540983592 COL4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Retinal arterial tortuosity
RS540997326 GCSH Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS540998437 CRTAP Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 7, Osteogenesis imperfecta
RS541001298 MMUT Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Peroxisome biogenesis disorder 8A (Zellweger)
RS541005316 NACC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS541008862 PAPSS2 Health Risk Pathogenic/Likely pathogenic Spondyloepimetaphyseal dysplasia, PAPSS2 type
RS541011963 AMT Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS541022022 SKIC3 Health Risk Pathogenic —
RS541022183 USH2A Health Risk Conflicting classifications of pathogenicity —
RS541024038 DEPDC5 Health Risk Pathogenic Epilepsy, familial focal
RS541028076 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS541035764 CBL Health Risk Conflicting classifications of pathogenicity CBL-related disorder, CBL-related disorder
RS541038013 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Inborn genetic diseases
RS541040798 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS541041759 DGAT1 Health Risk Conflicting classifications of pathogenicity Congenital diarrhea 7 with exudative enteropathy, DGAT1-related disorder
RS541041911 AHI1 Health Risk Pathogenic Joubert syndrome 3, Joubert syndrome
RS541042265 MCPH1 Health Risk Conflicting classifications of pathogenicity Microcephaly 1, primary
RS541043583 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS541046450 TPM1 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3
RS541051452 ZNF407 Health Risk Conflicting classifications of pathogenicity —
RS541053205 FRAS1 Health Risk Conflicting classifications of pathogenicity Congenital anomaly of kidney and urinary tract, Congenital anomaly of kidney and urinary tract
RS541056569 CHD2 Health Risk Pathogenic —
RS541057765 PDGFRA Health Risk Conflicting classifications of pathogenicity Idiopathic hypereosinophilic syndrome, Gastrointestinal stromal tumor
RS541069522 PGM1 Health Risk Conflicting classifications of pathogenicity PGM1-congenital disorder of glycosylation, PGM1-congenital disorder of glycosylation
RS541069777 SLC46A1 Health Risk Conflicting classifications of pathogenicity Congenital defect of folate absorption, Congenital defect of folate absorption
RS541077599 PRDM16 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 8, Left ventricular noncompaction 8
RS541080567 BAG3 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS541081959 HSD17B4 Health Risk Conflicting classifications of pathogenicity Bifunctional peroxisomal enzyme deficiency, HSD17B4-related disorder
RS541085532 PSTPIP1 Health Risk Conflicting classifications of pathogenicity Pyogenic arthritis-pyoderma gangrenosum-acne syndrome, Autoinflammatory syndrome
RS541098659 PNPLA6 Health Risk Pathogenic Ataxia-hypogonadism-choroidal dystrophy syndrome, Hereditary spastic paraplegia 39
RS541110664 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS541110984 HIVEP2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 43
RS541120113 PIEZO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Gordon syndrome
RS541125667 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS541125786 WFS1 Health Risk Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders, Autosomal dominant nonsyndromic hearing loss 6
RS541134948 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS541135644 PCNT Health Risk Conflicting classifications of pathogenicity PCNT-related disorder, Inborn genetic diseases
RS541157165 FAT4 Health Risk Conflicting classifications of pathogenicity FAT4-related disorder, FAT4-related disorder
RS541169535 CLCN7 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 4, Hypopigmentation
RS541171482 GFM1 Health Risk Pathogenic/Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS541180386 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS541186661 MCOLN1 Health Risk Conflicting classifications of pathogenicity Mucolipidosis type IV, Mucolipidosis type IV
RS541190639 PRKD1 Health Risk Conflicting classifications of pathogenicity —
RS541197556 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4C
RS541204010 HTRA1 Health Risk Conflicting classifications of pathogenicity Macular degeneration, HTRA1-related disorder
RS541208710 SLC25A20 Health Risk Pathogenic Carnitine acylcarnitine translocase deficiency, SLC25A20-related disorder
RS541208827 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS541209445 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS541209817 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS541216784 GLI3 Health Risk Conflicting classifications of pathogenicity Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS541217363 TEK Health Risk Pathogenic Glaucoma 3, primary congenital
RS541219767 BIN1 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear
RS541223359 PRSS1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS541232616 DNAAF2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 10, Primary ciliary dyskinesia
RS541253552 CACNB2 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 4, Cardiovascular phenotype
RS541254027 TTN Health Risk Conflicting classifications of pathogenicity —
RS541260181 PCNT Health Risk Conflicting classifications of pathogenicity PCNT-related disorder, PCNT-related disorder
RS541260302 CFB Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with B factor anomaly, Complement factor b deficiency
RS541260525 BCS1L Health Risk Pathogenic/Likely pathogenic Pili torti-deafness syndrome, GRACILE syndrome
RS541262134 MAGEL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, MAGEL2-related disorder
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