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: rs1057519076
rs1057519076
KCNN4
3 0.925 0.200 19 43769805 missense variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs544281438
rs544281438
PIEZO1 ; MIR4722
1 1.000 0.200 16 88716650 missense variant G/A snv 7.2E-05 5.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs749288233
rs749288233
PIEZO1 ; CTU2
2 0.925 0.200 16 88715708 missense variant C/T snv 6.4E-06 0.010 1.000 1 2013 2013