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: rs768663992
rs768663992
5 0.882 0.160 16 3508407 missense variant T/G snv 1.3E-05 4.2E-05 0.700 1.000 1 2017 2017
dbSNP: rs769705065
rs769705065
5 0.882 0.160 16 3520011 stop gained C/T snv 7.0E-06 0.700 1.000 1 2017 2017