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: rs587777451
rs587777451
PIEZO2
1 1.000 0.160 18 10671730 missense variant G/A snv 0.800 1.000 1 2014 2014
dbSNP: rs786204815
rs786204815
ZEB2
3 0.882 0.360 2 144400160 stop gained G/A snv 0.010 1.000 1 2019 2019