rs529884745, KCNJ11

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Congenital Hyperinsulinism
CUI: C3888018
Disease: Congenital Hyperinsulinism
27 0.925 0.160 11 17387641 missense variant C/T snv 2.0E-05 5.6E-05 0.010 1.000 1 2017 2017
DEND syndrome
CUI: C4303593
Disease: DEND syndrome
8 0.925 0.160 11 17387641 missense variant C/T snv 2.0E-05 5.6E-05 0.010 1.000 1 2017 2017