Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs74552543
rs74552543
CNNM4
1 1.000 0.120 2 96761970 missense variant T/C snv 0.800 1.000 2 2009 2009
dbSNP: rs75267011
rs75267011
CNNM4
1 1.000 0.120 2 96761706 missense variant G/A snv 0.800 1.000 2 2009 2009
dbSNP: rs79424354
rs79424354
CNNM4
1 1.000 0.120 2 96761598 missense variant C/A snv 4.0E-06 0.800 0
dbSNP: rs1432600424
rs1432600424
CNNM4
3 0.882 0.120 2 96799118 stop gained C/G;T snv 7.0E-06 0.700 0
dbSNP: rs1455470131
rs1455470131
CNNM4 ; MIR3127
1 1.000 0.120 2 96797521 stop gained C/T snv 0.700 0
dbSNP: rs75559353
rs75559353
CNNM4
1 1.000 0.120 2 96809338 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs80100937
rs80100937
CNNM4
1 1.000 0.120 2 96799065 stop gained C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs879255500
rs879255500
CNNM4
1 1.000 0.120 2 96799056 splice acceptor variant G/C snv 0.700 0
dbSNP: rs1021713187
rs1021713187
CNNM4
1 1.000 0.120 2 96799188 stop gained C/T snv 1.2E-05 1.4E-05 0.010 1.000 1 2018 2018