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
RS201934623 AR Health Risk Conflicting classifications of pathogenicity Partial androgen insensitivity syndrome, Hypospadias 1
RS201934740 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS2019349792 AHDC1 Health Risk Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS201935129 MAGEL2 Health Risk Conflicting classifications of pathogenicity Prader-Willi syndrome, Schaaf-Yang syndrome
RS201935443 SLITRK6 Health Risk Conflicting classifications of pathogenicity SLITRK6-related disorder, SLITRK6-related disorder
RS201935658 COL6A1 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS201935727 ASPM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2019359088 AHDC1 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS2019363981 AHDC1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS201936518 SLC6A19 Health Risk Conflicting classifications of pathogenicity Neutral 1 amino acid transport defect, Neutral 1 amino acid transport defect
RS201936620 TFR2 Health Risk Conflicting classifications of pathogenicity Hemochromatosis type 3, Hereditary hemochromatosis
RS201936649 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, SPG11-related disorder
RS201936675 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS201936962 PHYH Health Risk Conflicting classifications of pathogenicity Phytanic acid storage disease, Inborn genetic diseases
RS201936976 AP3B1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, Inborn genetic diseases
RS201937048 APP Health Risk Conflicting classifications of pathogenicity Alzheimer disease, Alzheimer disease
RS201937366 SH3TC2 Health Risk Conflicting classifications of pathogenicity Susceptibility to mononeuropathy of the median nerve, mild
RS201937732 ASXL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201937982 RAF1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, RASopathy
RS201938007 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS201938124 BBS9 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 9, Bardet-Biedl syndrome
RS2019386507 AHDC1 Health Risk Likely pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS201938886 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS201939337 LAMA4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1JJ
RS201939338 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS201939836 ARL6 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Bardet-Biedl syndrome 3
RS201940342 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS201940391 IRF6 Health Risk Pathogenic —
RS201940393 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Autoinflammatory syndrome
RS201940585 SRP72 Health Risk Conflicting classifications of pathogenicity Autosomal dominant aplasia and myelodysplasia, SRP72-related disorder
RS201940855 CDHR1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 15, Cone-rod dystrophy 15
RS201940876 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS201940931 XPC Health Risk Pathogenic Xeroderma pigmentosum, group C
RS201940939 COL17A1 Health Risk Likely pathogenic Epidermolysis bullosa, junctional 4
RS201940959 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, MYO15A-related disorder
RS201940970 CACNA1B Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, CACNA1B-related disorder
RS2019410275 AHDC1 Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS201941476 SERAC1 Health Risk Pathogenic/Likely pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy
RS201941509 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS201941745 EARS2 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, Inborn genetic diseases
RS201941844 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Inborn genetic diseases
RS201942027 MYH9 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder
RS2019422827 AHDC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201942310 CEP152 Health Risk Conflicting classifications of pathogenicity Seckel syndrome 5, Microcephaly 9
RS201942331 GPC3 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, Inborn genetic diseases
RS201942380 TOP3A Health Risk Conflicting classifications of pathogenicity —
RS201942511 DSPP Health Risk Conflicting classifications of pathogenicity DSPP-related disorder, Inborn genetic diseases
RS201943194 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS2019433712 AHDC1 Health Risk Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, Inborn genetic diseases
RS201943537 SLC24A1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1D, Inborn genetic diseases
RS201943633 ZNF469 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Cardiovascular phenotype
RS2019436671 AHDC1 Health Risk Likely pathogenic —
RS201943863 SEC23B Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II
RS201944035 APRT Health Risk Conflicting classifications of pathogenicity Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
RS201944089 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS201944202 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Tibial muscular dystrophy
RS201944222 PIGT Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies-hypotonia-seizures syndrome 3, Inborn genetic diseases
RS201944276 PKP2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS201944549 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS201944713 TNXB Health Risk Conflicting classifications of pathogenicity —
RS201944805 MRTFA Health Risk Conflicting classifications of pathogenicity —
RS2019449305 AHDC1 Health Risk Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS201945078 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases
RS201945197 TTN Health Risk Conflicting classifications of pathogenicity —
RS201945206 TYK2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Immunodeficiency 35
RS201945549 PRDM5 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brittle cornea syndrome 2
RS201945662 SLC12A3 Health Risk Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS201945791 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS201945889 GLI2 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 9, Inborn genetic diseases
RS2019459021 AHDC1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS201945919 CHMP1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201946793 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS201946946 ABCC2 Health Risk Conflicting classifications of pathogenicity Dubin-Johnson syndrome, Dubin-Johnson syndrome
RS201946950 LPL Health Risk Conflicting classifications of pathogenicity Hyperlipoproteinemia, type I
RS201947120 DHODH Health Risk Pathogenic/Likely pathogenic Miller syndrome, Miller syndrome
RS201947254 DICER1 Health Risk Likely pathogenic DICER1-related tumor predisposition, Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
RS201947293 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS201947443 FGFR3 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, FGFR3-related disorder
RS201947516 FRAS1 Health Risk Pathogenic/Likely pathogenic Fraser syndrome 1, Fraser syndrome 1
RS201947677 NOBOX Health Risk Conflicting classifications of pathogenicity Premature ovarian failure 5, Genetic non-acquired premature ovarian failure
RS201947776 CIT Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201947846 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS201947904 RAPSN Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11
RS201947999 BICD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases
RS201948157 DNAH1 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 18, Ciliary dyskinesia
RS2019482037 AHDC1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS201948406 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Inborn genetic diseases
RS201948434 TSEN54 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Pontocerebellar hypoplasia type 2A
RS201948472 ABRAXAS1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS201948500 DYNC2LI1 Health Risk Pathogenic/Likely pathogenic Short-rib thoracic dysplasia 15 with polydactyly, Asphyxiating thoracic dystrophy 1
RS2019488878 AHDC1 Health Risk Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS2019490062 AHDC1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS201949837 CRB1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 8, Retinitis pigmentosa
RS201949844 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS201950081 PIEZO1 Health Risk Conflicting classifications of pathogenicity Blood group, ER
RS201950092 SPEG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201950472 A2ML1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome, Noonan syndrome
RS201950696 FNDC1 Health Risk Conflicting classifications of pathogenicity —
RS201950738 PTPN23 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, Inborn genetic diseases
RS201951073 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
« Prev 1 ... 1502 1503 1504 1505 1506 1507 1508 ... 4509 Next »

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

Get Started Free →