DMPK, DM1 protein kinase, 1760

N. diseases: 96; N. variants: 3
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1283740147
rs1283740147
1.000 0.080 19 45777777 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2014 2014