DMXL2
Disease associated variation - ClinVar
Allele IDTypeNameRS#dbSNPPhenotype IDsChromosomeStartStopReferenceAlternate
171257deletionNM_015263.3(DMXL2):c.5827_5841delGATGGCAATGGAAGT (p.Asp1943_Ser1947del)606231461MedGen:CN221664,OMIM:616113155177346251773476ACTTCCATTGCCATC-
171257deletionNM_015263.3(DMXL2):c.5827_5841delGATGGCAATGGAAGT (p.Asp1943_Ser1947del)606231461MedGen:CN221664,OMIM:616113155148126551481279ACTTCCATTGCCATC-
Disease associated variation - GWASdb
ChrPosSNP ID(dbSNP 142)RefAltOri SNP IDP-valueDrug NameDrug AnnoGWAS TraitHPO IDDO IDAATypeTrait or Drug
1551906987rs750163AGrs7501635.20E-04ALDOSTERONEBIOLOGICAL MARKERS|NATRIURETIC PEPTIDE, BRAIN|RENINBlood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption)HPOID:0011025DOID:10763TintronGWASdb_drug
1551763587rs140921435GArs1409214350.00012Breast cancer (ER positive)HPOID:0003002DOID:1612GmissenseGWASdb_trait
1551791559rs12102203AGrs121022034.03E-05CholesterolHPOID:0003107DOID:2349|DOID:3393|DOID:3146GmissenseGWASdb_trait
1551873173rs4775953GTrs47759536.50E-04Lymphocyte countsHPOID:0004332|HPOID:0002665DOID:2841|DOID:1240|DOID:0060058|DOID:614|DOID:1287TintronGWASdb_trait
1551878548rs184120294AGrs1841202949.63E-05Acne (severe)HPOID:0001061DOID:6543AintronGWASdb_trait
1551882369rs882385CTrs8823858.47E-04Type 2 diabetesHPOID:0005978DOID:9352GintronGWASdb_trait
1551901605rs6493511AGrs64935119.86E-04Alcohol dependenceHPOID:0000707DOID:0050741A,GintronGWASdb_trait
1551906987rs750163AGrs7501635.20E-04Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption)HPOID:0011025DOID:10763TintronGWASdb_trait
Disease associated variation - OMIM
Ensembl_gene_ID Approved Gene Symbol MIM Number
ENSG00000104093.13 DMXL2 612186