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: rs587777450
rs587777450
PIEZO2
9 0.790 0.320 18 10671729 missense variant C/T snv 0.800 1.000 1 2014 2014
dbSNP: rs724159993
rs724159993
PIEZO2
1 1.000 0.120 18 10671541 stop gained TCTAGTCC/- delins 0.700 1.000 1 2014 2014
dbSNP: rs587777452
rs587777452
PIEZO2
2 0.925 0.240 18 10671633 missense variant C/A;G;T snv 0.700 0