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
RS753759723 GLDC Health Risk Pathogenic/Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS753759904 COL6A1 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS753760095 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS753761094 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS753761607 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, 7 conditions
RS753761683 GNAT1 Health Risk Pathogenic —
RS753762300 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis
RS75376282 ABCC8 Health Risk Conflicting classifications of pathogenicity Diabetes mellitus, transient neonatal
RS753763148 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS753763495 CEP120 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 13 with or without polydactyly, Inborn genetic diseases
RS753764275 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS753767193 TBC1D24 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 65, Developmental and epileptic encephalopathy
RS753767237 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS753767582 ABRAXAS1 Health Risk Conflicting classifications of pathogenicity —
RS753767675 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis
RS753767897 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS753768072 GP1BA Health Risk Pathogenic Bernard Soulier syndrome, Bernard Soulier syndrome
RS753768576 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS753768741 PRDM5 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, PRDM5-related disorder
RS753768766 KAT6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753769576 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS753769799 SPTA1 Health Risk Conflicting classifications of pathogenicity Pyropoikilocytosis, hereditary
RS753770061 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome 9, Meckel syndrome
RS753770252 VPS13B Health Risk Pathogenic Inborn genetic diseases, Cohen syndrome
RS753771532 DNAH1 Health Risk Pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS753773546 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS753774484 CYP11B1 Health Risk Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Congenital adrenal hyperplasia
RS75377471 PEX10 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder
RS753774833 NPHP4 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS753774853 SELENON Health Risk Conflicting classifications of pathogenicity Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS753775062 FKBP14 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type
RS753775083 PEPD Health Risk Pathogenic —
RS753776168 ZIC2 Health Risk Pathogenic —
RS753776182 FOLR1 Health Risk Pathogenic Cerebral folate transport deficiency, Cerebral folate transport deficiency
RS753776329 CNGB1 Health Risk Pathogenic Retinitis pigmentosa 45, Retinitis pigmentosa 45
RS753776604 CPT1A Health Risk Pathogenic/Likely pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS753778809 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS753779965 SCO2 Health Risk Conflicting classifications of pathogenicity Cardioencephalomyopathy, fatal infantile
RS753780084 DPM1 Health Risk Pathogenic Congenital disorder of glycosylation type 1E, Malignant tumor of urinary bladder
RS753780877 HERC1 Health Risk Pathogenic Megalencephaly with thick corpus callosum, cerebellar atrophy
RS753782098 TARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753782715 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS753785426 COCH Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 9, Autosomal dominant nonsyndromic hearing loss 9
RS753785671 BARD1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS753785719 B9D1 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS753786462 BCOR Health Risk Conflicting classifications of pathogenicity Oculofaciocardiodental syndrome, BCOR-related disorder
RS753787033 HPDL Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Spastic paraplegia
RS753787975 TALDO1 Health Risk Likely pathogenic Deficiency of transaldolase, TALDO1-related disorder
RS753788498 HARS1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 3B, Usher syndrome type 3B
RS753789459 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS753790195 F10 Health Risk Pathogenic Factor X deficiency, Factor X deficiency
RS753790346 MYO15A Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 3
RS753791074 CD36 Health Risk Likely pathogenic CD36-related disorder, Platelet-type bleeding disorder 10
RS753791198 CPLANE1 Health Risk Likely pathogenic Joubert syndrome 17, Joubert syndrome 17
RS753792077 ZFYVE26 Health Risk Likely pathogenic —
RS753792152 BMPR2 Health Risk Conflicting classifications of pathogenicity Primary pulmonary hypertension, Inborn genetic diseases
RS753793346 HCN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753793522 ECHS1 Health Risk Conflicting classifications of pathogenicity Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS753794138 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases
RS753794696 MPDZ Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753794752 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS753795563 DYRK1A Health Risk Pathogenic/Likely pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related disorder
RS753795627 GCK Health Risk Likely pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young type 1
RS753796180 LIPA Health Risk Pathogenic/Likely pathogenic Wolman disease, Cholesteryl ester storage disease
RS753796271 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colon cancer
RS753797445 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS753798236 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS753798494 TGM1 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS753798870 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS753800840 WDR62 Health Risk Conflicting classifications of pathogenicity Microcephaly 2, primary
RS753801146 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS753801611 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2, Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2
RS753802322 TBK1 Health Risk Conflicting classifications of pathogenicity Severe SARS-CoV-2 infection, susceptibility to
RS753802842 DYNC2I2 Health Risk Pathogenic/Likely pathogenic Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly
RS753803330 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS753803615 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753803790 SZT2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 18
RS753803824 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS753804000 HPS6 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6
RS753804023 ADAMTS17 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive
RS753804606 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS753805537 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS753806117 STAT2 Health Risk Pathogenic Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
RS753806649 LDLRAP1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS753807100 FN1 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type
RS753808755 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS753810197 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS75381106 CIITA Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, MHC class II deficiency
RS753811189 FKRP Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2I, Autosomal recessive limb-girdle muscular dystrophy type 2I
RS753811883 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS753812499 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS753812859 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS753816420 MOCS2 Health Risk Pathogenic/Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
RS753816946 ACAT1 Health Risk Conflicting classifications of pathogenicity Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS753817458 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS753818473 COL4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies
RS75381894 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS753818949 COL4A4 Health Risk Pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS753819164 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS753819738 COL2A1 Health Risk Conflicting classifications of pathogenicity Achondrogenesis type II, Achondrogenesis type II
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