rs199472947, KCNH2

N. diseases: 1
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.
Short Qt Syndrome
CUI: C2348199
Disease: Short Qt Syndrome
5 1.000 0.080 7 150951540 missense variant G/A;C snv 0.020 1.000 2 2011 2019