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
RS776938447 POLE Health Risk Conflicting classifications of pathogenicity Polymerase proofreading-related adenomatous polyposis, Polymerase proofreading-related adenomatous polyposis
RS776938735 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS776938956 WNT10B Health Risk Likely pathogenic Split hand-foot malformation 6, Split hand-foot malformation 6
RS776939095 NDUFA10 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776939220 ARG1 Health Risk Pathogenic/Likely pathogenic Arginase deficiency, Arginase deficiency
RS7769409 CYP21A2;LOC106780800;TNXB Health Risk Pathogenic ADRENAL HYPERPLASIA, CONGENITAL
RS776941281 RPGRIP1L Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS776943352 GBE1 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease IV, classic hepatic
RS776943572 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS776944266 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS776946940 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS776947608 SUMF1 Health Risk Conflicting classifications of pathogenicity Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS776947613 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS776947628 PGRMC1 Health Risk Likely pathogenic Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
RS776948121 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS776948275 APRT Health Risk Pathogenic Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
RS776949129 PCLO Health Risk Conflicting classifications of pathogenicity —
RS776949511 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS776950412 CEP250 Health Risk Pathogenic —
RS776951218 FGF9 Health Risk Conflicting classifications of pathogenicity Multiple synostoses syndrome 3, Multiple synostoses syndrome 3
RS776952851 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776953479 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS776953681 MARVELD2 Health Risk Pathogenic —
RS776954085 MICAL1 Health Risk Likely pathogenic —
RS776954184 WT1 Health Risk Conflicting classifications of pathogenicity Meacham syndrome, Nephrotic syndrome
RS776954529 DHCR24 Health Risk Conflicting classifications of pathogenicity Desmosterolosis, Inborn genetic diseases
RS776956365 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS776957067 TRAF3IP1 Health Risk Pathogenic —
RS776957107 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS776957816 NEK1 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Short-rib thoracic dysplasia 6 with or without polydactyly
RS776959465 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS776960135 SLC29A3 Health Risk Pathogenic/Likely pathogenic H syndrome, H syndrome
RS776960175 DLL3 Health Risk Pathogenic —
RS776960594 TSEN54 Health Risk Conflicting classifications of pathogenicity Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia
RS776961395 OTOG Health Risk Conflicting classifications of pathogenicity —
RS77696190 ABAT Health Risk Conflicting classifications of pathogenicity Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS776962888 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS776962899 TRIOBP Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 28, Autosomal recessive nonsyndromic hearing loss 28
RS776963292 RPGRIP1 Health Risk Pathogenic Leber congenital amaurosis 6, Cone-rod dystrophy 13
RS776963332 LZTR1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS776963381 WRN Health Risk Pathogenic Werner syndrome, Familial cancer of breast
RS776964609 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS776965925 IGFALS Health Risk Conflicting classifications of pathogenicity Short stature due to primary acid-labile subunit deficiency, Inborn genetic diseases
RS776966222 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS776967833 UBR1 Health Risk Likely pathogenic —
RS776968118 FLG Health Risk Pathogenic Ichthyosis vulgaris, Autosomal dominant ichthyosis vulgaris
RS776968317 DNAH8 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS776968332 KCNB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 26
RS776968656 USH1G Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776968811 CACNA1D Health Risk Conflicting classifications of pathogenicity —
RS776969475 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS776969626 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS776969714 SEPSECS Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 2D, Inborn genetic diseases
RS776969786 MTHFR Health Risk Pathogenic/Likely pathogenic Neural tube defects, folate-sensitive
RS776970935 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS776971122 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Inborn genetic diseases
RS776971498 ADGRV1 Health Risk Pathogenic/Likely pathogenic Usher syndrome, Usher syndrome
RS776972228 CHRND Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome, Lethal multiple pterygium syndrome
RS776972443 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiac arrest, Long QT syndrome
RS776973679 DHODH Health Risk Pathogenic Miller syndrome, DHODH-related disorder
RS776974668 ALG2 Health Risk Conflicting classifications of pathogenicity ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14
RS776974834 PIGT Health Risk risk factor Paroxysmal nocturnal hemoglobinuria 2, Paroxysmal nocturnal hemoglobinuria 2
RS776975714 MYLK Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Aortic aneurysm
RS776975980 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS776976178 AP4B1 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 47, Hereditary spastic paraplegia
RS776976720 SPINK5 Health Risk Pathogenic Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS776977863 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS776978090 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS776978539 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS776978579 ALDH5A1 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS776979382 DRC2 Health Risk Pathogenic Primary ciliary dyskinesia 27, Primary ciliary dyskinesia 27
RS776979647 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS776980207 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS776980871 MED13 Health Risk Conflicting classifications of pathogenicity MED13-related disorder, Inborn genetic diseases
RS776981475 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS776981958 TERT Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS776982138 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS776982434 ATP2C1 Health Risk Pathogenic —
RS776983439 SEC23B Health Risk Pathogenic/Likely pathogenic Congenital dyserythropoietic anemia, type II
RS776984527 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS776986046 CDH23 Health Risk Pathogenic —
RS776986585 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS776986750 ATPAF2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
RS776987537 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS776988725 POMT1 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K, Autosomal recessive limb-girdle muscular dystrophy type 2K
RS776988756 GPHN Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Inborn genetic diseases
RS776989189 IQCB1 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Senior-Loken syndrome 5
RS776989258 CYP21A2 Health Risk Pathogenic/Likely pathogenic ADRENAL HYPERPLASIA, CONGENITAL
RS776990064 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS776990436 ALG1 Health Risk Pathogenic/Likely pathogenic ALG1-congenital disorder of glycosylation, ALG1-related disorder
RS776990880 DYNC1H1 Health Risk Conflicting classifications of pathogenicity DYNC1H1-related neurodevelopmental disorders, Charcot-Marie-Tooth disease axonal type 2O
RS776993217 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS776993441 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS776994377 HFE Health Risk Likely pathogenic Alzheimer disease type 1, Hereditary hemochromatosis
RS776995095 ACSF3 Health Risk Pathogenic/Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS776995551 PPT1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS776996002 FAM161A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS776996468 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS776996813 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS776997964 MYO15A Health Risk Pathogenic —
« Prev 1 ... 3632 3633 3634 3635 3636 3637 3638 ... 4509 Next »

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

Get Started Free →