SNP Directory

400,964 genetic variants in our database.

Clear
All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS782618187 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2Q
RS782618362 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, Cardiovascular phenotype
RS782618396 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS782619990 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, X-linked distal spinal muscular atrophy type 3
RS782620122 SURF1 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Leigh syndrome
RS782621365 HUWE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS782621818 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS782622284 G6PD Health Risk Conflicting classifications of pathogenicity G6PD deficiency, Anemia
RS782622653 JUP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Naxos disease
RS782622660 DKC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Dyskeratosis congenita
RS782623392 G6PD Health Risk Conflicting classifications of pathogenicity G6PD deficiency, Anemia
RS782623477 SURF1 Health Risk Pathogenic Leigh syndrome, Mitochondrial complex IV deficiency
RS782624357 TMLHE Health Risk Pathogenic Epsilon-trimethyllysine hydroxylase deficiency, Epsilon-trimethyllysine hydroxylase deficiency
RS782624968 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B
RS782625211 ADAMTS10 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, ADAMTS10-related disorder
RS782625636 HACD1 Health Risk Pathogenic —
RS782627360 LAMA4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1JJ
RS782627671 RPS19 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia, Diamond-Blackfan anemia 1
RS782628250 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, Cutis laxa
RS782628755 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Adrenoleukodystrophy
RS782628825 TONSL Health Risk Conflicting classifications of pathogenicity —
RS782628949 OPLAH Health Risk Pathogenic 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency
RS782629836 ATP7A Health Risk Conflicting classifications of pathogenicity Cutis laxa, X-linked
RS782630063 C1S Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782630348 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS782630676 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS782631059 WDR45 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS782631753 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782631950 TUBB8 Health Risk Pathogenic Oocyte maturation defect 2, Oocyte maturation defect 2
RS782631956 WAS Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 1, Wiskott-Aldrich syndrome
RS782632029 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS782632137 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS782632205 FKBP10 Health Risk Conflicting classifications of pathogenicity —
RS782632583 PLEC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Epidermolysis bullosa simplex with nail dystrophy
RS782633525 PACS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782633598 MYO7A Health Risk Likely pathogenic —
RS782634926 RBP3 Health Risk Pathogenic —
RS782634993 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS782635621 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS782635828 ABCD1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Adrenoleukodystrophy
RS782636104 MYO7A Health Risk Pathogenic/Likely pathogenic MYO7A-related disorder, MYO7A-related disorder
RS782636282 HYAL1 Health Risk Pathogenic Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase
RS782636507 HCFC1 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX
RS782636781 WAS Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 1, Wiskott-Aldrich syndrome
RS782637049 RPS19 Health Risk Likely pathogenic —
RS782637386 G6PD Health Risk Conflicting classifications of pathogenicity Anemia, nonspherocytic hemolytic
RS782637786 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS782638331 MECP2 Health Risk Pathogenic Severe neonatal-onset encephalopathy with microcephaly, Rett syndrome
RS782638360 EBP Health Risk Conflicting classifications of pathogenicity MEND syndrome, Chondrodysplasia punctata 2 X-linked dominant
RS782638392 CPA1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS782638735 ADAMTS10 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Weill-Marchesani syndrome
RS782638955 FKBP10 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 11, Osteogenesis imperfecta type 11
RS782639389 MYO7A Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Autosomal dominant nonsyndromic hearing loss 11
RS782639698 FLNA Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Heterotopia
RS782640048 C12orf57 Health Risk Likely pathogenic Temtamy syndrome, Temtamy syndrome
RS782640329 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5C
RS782640338 MTM1 Health Risk Conflicting classifications of pathogenicity Severe X-linked myotubular myopathy, Inborn genetic diseases
RS782640594 FOXP3 Health Risk Conflicting classifications of pathogenicity Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
RS782640869 CPSF1 Health Risk Conflicting classifications of pathogenicity Myopia 27, Myopia 27
RS782641553 HUWE1 Health Risk Conflicting classifications of pathogenicity —
RS782641941 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS782642000 NOTCH2 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome
RS782642152 EMD Health Risk Conflicting classifications of pathogenicity X-linked Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype
RS782642246 HYAL2 Health Risk Pathogenic/Likely pathogenic HYAL2 deficiency, Muggenthaler-Chowdhury-Chioza syndrome
RS782642707 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex 5C
RS782643005 ELN Health Risk Conflicting classifications of pathogenicity —
RS782643025 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS782643537 CUX1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Global developmental delay with or without impaired intellectual development
RS782643774 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS782643791 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS782644985 EMD Health Risk Conflicting classifications of pathogenicity X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy
RS782645078 SLC37A4 Health Risk Pathogenic/Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS782645631 CPA1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS782645927 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS782647137 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS782647894 HMBS Health Risk Conflicting classifications of pathogenicity —
RS782648921 JUP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 12
RS782649322 ACTG1 Health Risk Conflicting classifications of pathogenicity Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20
RS782649881 ADAMTS13 Health Risk Likely pathogenic Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS782650176 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS782650242 FLNA Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Heterotopia
RS782650278 HUWE1 Health Risk Likely pathogenic HUWE1-related disorder, HUWE1-related disorder
RS782650611 ORAI1 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to ORAI1 deficiency, Myopathy
RS782650688 TSPEAR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782651571 ATP7A Health Risk Conflicting classifications of pathogenicity Cutis laxa, X-linked
RS782653195 OPLAH Health Risk Likely pathogenic 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency
RS782653725 TAFAZZIN Health Risk Conflicting classifications of pathogenicity 3-Methylglutaconic aciduria type 2, Cardiomyopathy
RS782654390 HYOU1 Health Risk Conflicting classifications of pathogenicity —
RS782656090 SLC46A1 Health Risk Pathogenic —
RS782656279 FMR1NB Health Risk Conflicting classifications of pathogenicity —
RS782656731 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex with nail dystrophy
RS782657516 F8 Health Risk Conflicting classifications of pathogenicity Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS782657740 IDS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-II
RS782658008 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS782659039 KATNB1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782659050 SMC1A Health Risk Conflicting classifications of pathogenicity Congenital muscular hypertrophy-cerebral syndrome, Developmental and epileptic encephalopathy
RS782660215 CCDC22 Health Risk Conflicting classifications of pathogenicity —
RS782660318 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS782661001 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS782661097 MYO7A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
« Prev 1 ... 3726 3727 3728 3729 3730 3731 3732 ... 4010 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →