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: rs121918679
rs121918679
TF
1 1.000 0.080 3 133766376 missense variant G/A;C;T snv 1.2E-05; 8.0E-06; 4.0E-06 0.800 1.000 2 2000 2004
dbSNP: rs121918681
rs121918681
TF ; INHCAP
1 1.000 0.080 3 133753607 missense variant G/A snv 7.0E-06 0.800 1.000 2 2000 2004
dbSNP: rs773139494
rs773139494
TF
1 1.000 0.080 3 133775570 missense variant C/A;T snv 1.2E-05 0.700 1.000 2 2000 2007
dbSNP: rs121918680
rs121918680
TF
1 1.000 0.080 3 133759306 missense variant G/A snv 4.0E-06 7.0E-06 0.700 0