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
RS372135000 XIRP2 Health Risk Conflicting classifications of pathogenicity —
RS372135475 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS372135504 DEAF1 Health Risk Conflicting classifications of pathogenicity —
RS372135575 CYP7B1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS372137068 SLC24A1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1D, Congenital stationary night blindness 1D
RS372137106 RBP3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS372138410 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS372139946 NIPBL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cornelia de Lange syndrome 1
RS372140951 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS372141050 ALG3 Health Risk Conflicting classifications of pathogenicity ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation
RS372141194 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, Inborn genetic diseases
RS372141290 VPS13A Health Risk Likely pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS372141774 VPS13C Health Risk Conflicting classifications of pathogenicity —
RS372143147 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS372143434 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS372144369 CCDC22 Health Risk Conflicting classifications of pathogenicity —
RS372144508 TRPM1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1C, Congenital stationary night blindness 1C
RS372145755 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Renal-hepatic-pancreatic dysplasia 1
RS372148301 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS372148913 PNKP Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures
RS372150492 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS372150992 KCTD7 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 3, Inborn genetic diseases
RS372152172 ABCA12 Health Risk Conflicting classifications of pathogenicity Congenital ichthyosis of skin, Congenital ichthyosis of skin
RS372152373 MC1R Health Risk Conflicting classifications of pathogenicity Melanoma, cutaneous malignant
RS372152804 SETD5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SETD5-related disorder
RS372152994 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Spherocytosis
RS372154191 PHIP Health Risk Conflicting classifications of pathogenicity PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS372154635 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS372154910 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS372155244 WDR4 Health Risk Pathogenic —
RS372156619 KCNJ10 Health Risk Conflicting classifications of pathogenicity EAST syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS372157851 DCDC2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis
RS372158001 PIGB Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 80
RS372158876 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Inborn genetic diseases
RS372159380 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS372159426 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS372161060 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS372161255 TRIP11 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IA
RS372161698 PDE6A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, PDE6A-related disorder
RS372161739 DNAAF3 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS372162252 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS372162318 SUZ12 Health Risk Pathogenic/Likely pathogenic SUZ12-related disorder, Inborn genetic diseases
RS372163487 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS372164615 CACNA2D1 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS372166228 DNAAF3 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS372166304 WRAP53 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 3
RS372166543 COL7A1 Health Risk Pathogenic/Likely pathogenic Epidermolysis bullosa dystrophica inversa, autosomal recessive
RS372166634 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS372166899 FREM2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Fraser syndrome 2
RS372167278 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, TNXB-related disorder
RS372168541 COL5A1 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia, Abnormal bleeding
RS372168929 FRAS1 Health Risk Conflicting classifications of pathogenicity —
RS372169109 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS372169216 MYO3A Health Risk Conflicting classifications of pathogenicity —
RS372169366 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS372169445 ACAT1 Health Risk Conflicting classifications of pathogenicity Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS372169542 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS372170139 RIT1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Noonan syndrome 8
RS372170366 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS372171438 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, NPHP4-related disorder
RS372172457 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS372172665 NEK8 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 9, Inborn genetic diseases
RS372172779 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS372173077 CDC45 Health Risk Likely pathogenic —
RS372173405 COL4A2 Health Risk Conflicting classifications of pathogenicity Porencephaly 2, Inborn genetic diseases
RS372173451 FRAS1 Health Risk Pathogenic Fraser syndrome 1, Fraser syndrome 1
RS372174278 GTPBP3 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 23, Combined oxidative phosphorylation defect type 23
RS372174546 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10
RS372174571 ALB Health Risk Conflicting classifications of pathogenicity Hyperthyroxinemia, familial dysalbuminemic
RS372174640 PPFIA3 Health Risk Likely pathogenic PPFIA3-related disorder, PAUL-CHAO NEURODEVELOPMENTAL SYNDROME
RS372174845 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS372175239 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS372175341 ABCB11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS372178531 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS372178862 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS372180825 SPG7 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS372181708 IGHMBP2 Health Risk Pathogenic/Likely pathogenic Neuronopathy, distal hereditary motor
RS372182200 COL2A1 Health Risk Conflicting classifications of pathogenicity Spondylometaphyseal dysplasia, Spondylometaphyseal dysplasia
RS372182266 PEX16 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 8B, Peroxisome biogenesis disorder 8A (Zellweger)
RS372182377 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS372183095 TULP1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 15, Retinitis pigmentosa
RS372183503 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, IFT140-related disorder
RS372184784 FRAS1 Health Risk Pathogenic —
RS372184971 OCA2 Health Risk Conflicting classifications of pathogenicity —
RS372185345 KCNH5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS372186092 RPGRIP1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS372187548 CPLANE1 Health Risk Conflicting classifications of pathogenicity CPLANE1-related disorder, Joubert syndrome 17
RS372187772 PRODH Health Risk Conflicting classifications of pathogenicity Proline dehydrogenase deficiency, Schizophrenia 4
RS372188386 LAMB3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS372188754 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS372189223 GFM1 Health Risk Conflicting classifications of pathogenicity Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS372189534 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS372189599 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS372190244 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS372190501 MYLK2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy 1
RS372190684 CEP290 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Nephronophthisis
RS372190702 DDX41 Health Risk Pathogenic DDX41-related hematologic malignancy predisposition syndrome, DDX41-related hematologic malignancy predisposition syndrome
RS372191499 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Inborn genetic diseases
RS372191563 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS372192645 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
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