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
RS761988412 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS761988851 FAN1 Health Risk Pathogenic/Likely pathogenic Kidney failure, Karyomegalic interstitial nephritis
RS761989177 ECHS1 Health Risk Pathogenic/Likely pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS761989332 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS761990380 POMT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS761990492 WDR19 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 5, Cranioectodermal dysplasia 4
RS761991070 MVD Health Risk Pathogenic Porokeratosis 7, multiple types
RS761991624 CABP4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Cone-rod dystrophy
RS761991787 TGFBR2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Loeys-Dietz syndrome
RS761992056 SLC2A2 Health Risk Likely pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS761992279 ODAD3 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 30, Primary ciliary dyskinesia 30
RS761993070 HIVEP2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 43
RS761993422 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS761993856 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS761994990 OBSCN Health Risk Conflicting classifications of pathogenicity OBSCN-related disorder, OBSCN-related disorder
RS761995771 PCNT Health Risk Conflicting classifications of pathogenicity PCNT-related disorder, Inborn genetic diseases
RS761996223 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS761996996 BCKDHA Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS761998546 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS761999108 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS761999849 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS761999855 FREM1 Health Risk Conflicting classifications of pathogenicity BNAR syndrome, Trigonocephaly 2
RS762000140 CEP250 Health Risk Likely pathogenic —
RS762000985 PDZD7 Health Risk Conflicting classifications of pathogenicity Hearing loss, autosomal recessive 57
RS762003393 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS762003634 PNKP Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 12
RS762004358 SLC26A5 Health Risk Conflicting classifications of pathogenicity —
RS762005138 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS762005729 WDR81 Health Risk Likely pathogenic Cerebellar ataxia, intellectual disability
RS762006290 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS762006562 FOXE3 Health Risk Pathogenic Congenital primary aphakia, Anterior segment dysgenesis
RS762007074 FBP1 Health Risk Likely pathogenic Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
RS762007406 LPL Health Risk Conflicting classifications of pathogenicity Hyperlipoproteinemia, type I
RS762009737 GNE Health Risk Conflicting classifications of pathogenicity GNE myopathy, Sialuria
RS762009796 OCRL Health Risk Conflicting classifications of pathogenicity Lowe syndrome, Lowe syndrome
RS762011731 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 15, Primary ciliary dyskinesia
RS762011967 TREX1 Health Risk Conflicting classifications of pathogenicity Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, Aicardi-Goutieres syndrome 1
RS762012668 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiovascular phenotype
RS762013077 F11 Health Risk Pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS762013134 TSHR Health Risk Conflicting classifications of pathogenicity —
RS762014488 MESP2 Health Risk Conflicting classifications of pathogenicity Spondylocostal dysostosis 2, autosomal recessive
RS762014835 LRP5 Health Risk Likely pathogenic 6 conditions, 6 conditions
RS762014857 TALDO1 Health Risk Conflicting classifications of pathogenicity Deficiency of transaldolase, Deficiency of transaldolase
RS762015494 WNK1 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C, Neuropathy
RS762015967 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS762016851 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS762016916 PRIM1 Health Risk Pathogenic Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, Seckel syndrome
RS762017822 ELAC2 Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS762017885 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS762018216 GPD1L Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS762018264 SLC22A4 Health Risk Conflicting classifications of pathogenicity —
RS762018538 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS762019955 G6PC3 Health Risk Pathogenic Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
RS762021815 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS762022186 KANSL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762023761 EDNRB Health Risk Pathogenic/Likely pathogenic Waardenburg syndrome type 4A, Waardenburg syndrome type 4A
RS762023872 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS762024275 COL17A1 Health Risk Pathogenic —
RS762024541 PODXL Health Risk Conflicting classifications of pathogenicity —
RS762025592 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS762026031 PLD1 Health Risk Likely pathogenic —
RS76202659 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS762028333 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS762028704 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS76202909 C6 Health Risk Conflicting classifications of pathogenicity C6 deficiency, subtotal
RS762029178 CCDC88C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hydrocephalus
RS762030694 TMEM216 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel syndrome
RS762031686 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS762031690 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS762031825 ABCG5 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Sitosterolemia 1
RS762031914 COLEC11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, 3MC syndrome 2
RS762031957 LRBA Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS762032797 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS762033589 ATP13A2 Health Risk Pathogenic Kufor-Rakeb syndrome, Kufor-Rakeb syndrome
RS762034228 SLC26A3 Health Risk Pathogenic Polyhydramnios, Hydrops fetalis
RS762034315 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS762034337 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS762035088 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS762035813 ANO5 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS762036318 PI4KA Health Risk Likely pathogenic PI4KA-related disorder, PI4KA-related disorder
RS762037579 DEPDC5 Health Risk Conflicting classifications of pathogenicity Familial focal epilepsy with variable foci, Epilepsy
RS76203768 CTBP2 Health Risk Pathogenic Pulmonary artery atresia, Pulmonary artery atresia
RS762039116 MYO5B Health Risk Conflicting classifications of pathogenicity Congenital microvillous atrophy, Congenital microvillous atrophy
RS762039541 CRTAP Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS762039865 PDGFRB Health Risk Conflicting classifications of pathogenicity Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome, Basal ganglia calcification
RS762040036 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Basal cell carcinoma
RS762040181 AGPAT2 Health Risk Conflicting classifications of pathogenicity Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1
RS762041441 SLC12A1 Health Risk Conflicting classifications of pathogenicity Bartter disease type 1, Bartter disease type 1
RS762041707 SOX9 Health Risk Conflicting classifications of pathogenicity Camptomelic dysplasia, Inborn genetic diseases
RS762041995 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS762043158 COL4A4 Health Risk Conflicting classifications of pathogenicity Hematuria, benign familial
RS762044597 CPT1A Health Risk Pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS762044635 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS76204496 WWOX Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS762047618 ACVRL1 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS762047744 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Inborn genetic diseases
RS762047808 BBS2 Health Risk Pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome
RS762048531 TSHR Health Risk Pathogenic/Likely pathogenic —
RS762050069 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS762051177 FRAS1 Health Risk Likely pathogenic Fraser syndrome 1, Fraser syndrome 1
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