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
RS782234539 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS782234944 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS782235036 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS782235228 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS782235888 L1CAM Health Risk Conflicting classifications of pathogenicity MASA syndrome, X-linked hydrocephalus syndrome
RS782236518 SLC39A4 Health Risk Conflicting classifications of pathogenicity Hereditary acrodermatitis enteropathica, Inborn genetic diseases
RS78223661 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Uterine corpus endometrial carcinoma
RS782237174 ARHGEF9 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 8
RS782237314 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, Cutis laxa
RS782237405 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex with nail dystrophy
RS782237472 LAMA4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS782237489 SURF1 Health Risk Pathogenic Leigh syndrome, Leigh syndrome
RS782238335 CUX1 Health Risk Likely pathogenic Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development
RS782238382 ELN Health Risk Conflicting classifications of pathogenicity Supravalvar aortic stenosis, Inborn genetic diseases
RS782238674 ELN Health Risk Likely pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS782238805 GDF2 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS782239008 HCFC1 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX
RS782239175 BGN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS782239711 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS782240044 TAFAZZIN Health Risk Conflicting classifications of pathogenicity 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS782240278 HYAL1 Health Risk Pathogenic Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase
RS782240483 FLNA Health Risk Conflicting classifications of pathogenicity Cardiac valvular dysplasia, X-linked
RS782241064 SLC39A4 Health Risk Pathogenic —
RS782241125 JUP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS782241632 SMC1A Health Risk Conflicting classifications of pathogenicity Congenital muscular hypertrophy-cerebral syndrome, Inborn genetic diseases
RS782241871 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS782241890 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS782242126 CYP2R1 Health Risk Pathogenic/Likely pathogenic Vitamin D hydroxylation-deficient rickets, type 1B
RS782242503 ADAMTS13 Health Risk Pathogenic ADAMTS13-related disorder, Upshaw-Schulman syndrome
RS782242954 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2Q
RS782243009 AFF2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782244301 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex with nail dystrophy
RS782244422 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS782244918 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS782245537 RBP3 Health Risk Pathogenic Autosomal recessive retinitis pigmentosa, Retinitis pigmentosa 66
RS782245545 SLC52A2 Health Risk Conflicting classifications of pathogenicity Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2
RS782246658 KDM5C Health Risk Pathogenic Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type
RS782246853 TUBB8 Health Risk Pathogenic Oocyte maturation defect 2, Oocyte maturation defect 2
RS782248986 ARHGEF9 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 8
RS782250326 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Adrenoleukodystrophy
RS782250606 G6PD Health Risk Conflicting classifications of pathogenicity Anemia, nonspherocytic hemolytic
RS782251807 MDH2 Health Risk Pathogenic —
RS782252317 MYO7A Health Risk Pathogenic Rare genetic deafness, Usher syndrome type 1
RS782252692 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS782252923 HCFC1 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX
RS782253905 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases
RS782254209 L1CAM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spastic paraplegia
RS782254368 ODAD4 Health Risk Likely pathogenic Primary ciliary dyskinesia 35, Primary ciliary dyskinesia 35
RS782255281 MYO7A Health Risk Pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 2
RS782257058 EBP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782257835 DGAT1 Health Risk Likely pathogenic Congenital diarrhea 7 with exudative enteropathy, Congenital diarrhea 7 with exudative enteropathy
RS782258533 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex with nail dystrophy
RS782258617 FAM3A Health Risk Conflicting classifications of pathogenicity —
RS782259548 ATP1A3 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Dystonia 12
RS782259574 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS782260332 ATP7A Health Risk Conflicting classifications of pathogenicity X-linked distal spinal muscular atrophy type 3, Menkes kinky-hair syndrome
RS782261124 JUP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS782261248 POR Health Risk Pathogenic/Likely pathogenic Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS782261639 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2Q
RS782262099 TUBB8 Health Risk Likely pathogenic Oocyte maturation defect 2, Oocyte maturation defect 2
RS782262202 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS782262926 PEX11B Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 14B, Peroxisome biogenesis disorder 14B
RS782263267 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS782263597 KMT2A Health Risk Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS782264331 G6PD Health Risk Conflicting classifications of pathogenicity Anemia, nonspherocytic hemolytic
RS782264575 ATP6V1B1 Health Risk Conflicting classifications of pathogenicity Renal tubular acidosis with progressive nerve deafness, Renal tubular acidosis with progressive nerve deafness
RS782266592 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS782268170 ATP7A Health Risk Conflicting classifications of pathogenicity X-linked distal spinal muscular atrophy type 3, Cutis laxa
RS782269355 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS782269374 TUBB8 Health Risk Likely pathogenic Inherited oocyte maturation defect, Oocyte maturation defect 2
RS782269425 FLNA Health Risk Conflicting classifications of pathogenicity Intellectual disability, Heterotopia
RS782269909 VPS45 Health Risk Likely pathogenic Congenital neutropenia-myelofibrosis-nephromegaly syndrome, Congenital neutropenia-myelofibrosis-nephromegaly syndrome
RS782271121 FKBP10 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type 11, Osteogenesis imperfecta type 11
RS782271243 HYAL1 Health Risk Pathogenic/Likely pathogenic Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase
RS782271365 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS782272214 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782272528 KDM5C Health Risk Conflicting classifications of pathogenicity Syndromic X-linked intellectual disability Claes-Jensen type, Spastic paraplegia
RS782273120 CPA1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS782274204 DGAT1 Health Risk Likely pathogenic —
RS782274478 ATRX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Acquired hemoglobin H disease
RS782274778 DDX6 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with impaired language and dysmorphic facies, Inborn genetic diseases
RS782274835 MTM1 Health Risk Conflicting classifications of pathogenicity Severe X-linked myotubular myopathy, Inborn genetic diseases
RS782275601 FLNA Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Heterotopia
RS782275834 PEX11B Health Risk Conflicting classifications of pathogenicity —
RS782276356 PQBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782276748 MYO7A Health Risk Likely pathogenic —
RS782278045 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2Q
RS782278608 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS782278974 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS782279081 ELN Health Risk Conflicting classifications of pathogenicity Supravalvar aortic stenosis, Familial thoracic aortic aneurysm and aortic dissection
RS782279338 MYO7A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS782279442 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 11, Usher syndrome type 1
RS782279681 HYAL1 Health Risk Conflicting classifications of pathogenicity Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase
RS782280953 ARCN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782281123 PLEC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Epidermolysis bullosa simplex 5C
RS782281134 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS782281167 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS782281371 MYO7A Health Risk Pathogenic Usher syndrome type 1, Usher syndrome type 1B
RS782281934 KMT2A Health Risk Conflicting classifications of pathogenicity —
RS782282118 RBP3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
« Prev 1 ... 3718 3719 3720 3721 3722 3723 3724 ... 4010 Next »

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

Get Started Free →