rs121912515, KCNH2

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.
Long Qt Syndrome 2
CUI: C3150943
Disease: Long Qt Syndrome 2
267 0.925 0.120 7 150974720 missense variant G/A;C;T snv 0.700 1.000 20 1995 2009
LONG QT SYNDROME 2/3, DIGENIC
CUI: C3276240
Disease: LONG QT SYNDROME 2/3, DIGENIC
2 0.925 0.120 7 150974720 missense variant G/A;C;T snv 0.700 0