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: rs58072617
rs58072617
KRT5
7 0.790 0.120 12 52517702 missense variant A/G;T snv 0.700 0
dbSNP: rs61126080
rs61126080
KRT5
2 0.925 0.120 12 52515066 frameshift variant C/- delins 0.700 0
dbSNP: rs57499817
rs57499817
KRT5
6 0.807 0.160 12 52520223 missense variant G/A snv 0.010 1.000 1 2006 2006