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: rs2232387
rs2232387
KRT75
3 1.000 0.040 12 52433824 missense variant C/T snv 0.13 0.14 0.010 1.000 1 2014 2014
dbSNP: rs2232398
rs2232398
KRT75
3 0.925 0.120 12 52430567 missense variant C/T snv 7.4E-03 6.5E-03 0.010 1.000 1 2014 2014