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: rs587777076
rs587777076
PIEZO2
1 1.000 0.200 18 10784872 missense variant T/A snv 0.800 1.000 2 2013 2014
dbSNP: rs587777452
rs587777452
PIEZO2
2 0.925 0.240 18 10671633 missense variant C/A;G;T snv 0.800 1.000 2 2013 2014
dbSNP: rs587777453
rs587777453
PIEZO2
1 1.000 0.200 18 10789114 missense variant T/A;C snv 7.0E-06 0.800 1.000 2 2013 2014
dbSNP: rs587777454
rs587777454
PIEZO2
1 1.000 0.200 18 10671571 missense variant A/G snv 0.800 1.000 2 2013 2014
dbSNP: rs1555621138
rs1555621138
PIEZO2
2 0.925 0.200 18 10671603 inframe deletion TCT/- delins 0.700 1.000 1 2014 2014
dbSNP: rs587777450
rs587777450
PIEZO2
9 0.790 0.320 18 10671729 missense variant C/T snv 0.700 1.000 1 2014 2014
dbSNP: rs878853135
rs878853135
PIEZO2
1 1.000 0.200 18 10671578 frameshift variant T/- del 0.700 1.000 1 2014 2014
dbSNP: rs878853137
rs878853137
PIEZO2
1 1.000 0.200 18 10689746 missense variant G/A snv 0.700 1.000 1 2014 2014
dbSNP: rs878853138
rs878853138
PIEZO2
1 1.000 0.200 18 10696257 missense variant G/A snv 0.700 1.000 1 2014 2014
dbSNP: rs878853139
rs878853139
PIEZO2
1 1.000 0.200 18 10696263 missense variant G/A snv 0.700 1.000 1 2014 2014
dbSNP: rs878853140
rs878853140
PIEZO2
1 1.000 0.200 18 10762977 missense variant A/G snv 0.700 1.000 1 2014 2014