CALM2, calmodulin 2, 805

N. diseases: 252; N. variants: 12
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: rs398124647
rs398124647
0.807 0.120 2 47161851 missense variant T/A;C snv
CUI: C4015695
Disease: LONG QT SYNDROME 15
LONG QT SYNDROME 15
0.800 1.000 6 2013 2016
dbSNP: rs398124648
rs398124648
0.925 0.080 2 47161748 missense variant A/C snv
CUI: C4015695
Disease: LONG QT SYNDROME 15
LONG QT SYNDROME 15
0.800 1.000 6 2013 2016
dbSNP: rs398124649
rs398124649
0.925 0.080 2 47161737 missense variant T/G snv
CUI: C4015695
Disease: LONG QT SYNDROME 15
LONG QT SYNDROME 15
0.800 1.000 6 2013 2016
dbSNP: rs398124650
rs398124650
0.882 0.120 2 47161744 missense variant C/G;T snv
CUI: C4015695
Disease: LONG QT SYNDROME 15
LONG QT SYNDROME 15
0.800 1.000 6 2013 2016
dbSNP: rs1553431702
rs1553431702
1.000 2 47161730 missense variant G/C snv
CUI: C4015695
Disease: LONG QT SYNDROME 15
LONG QT SYNDROME 15
0.700 0
dbSNP: rs730882254
rs730882254
1.000 2 47161857 missense variant T/A snv
CUI: C4015695
Disease: LONG QT SYNDROME 15
LONG QT SYNDROME 15
0.700 0