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: rs58751565
rs58751565
KRT5
1 1.000 0.080 12 52520283 stop gained G/A;T snv 1.6E-05 0.700 0
dbSNP: rs61348424
rs61348424
KRT5
1 1.000 0.080 12 52519878 frameshift variant -/T delins 0.700 0