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: rs137852741
rs137852741
7 0.807 0.120 2 202556360 stop gained C/G;T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs137852746
rs137852746
3 0.882 0.080 2 202552773 missense variant C/T snv 0.010 1.000 1 2004 2004