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: rs1057515580
rs1057515580
KLHL24
3 0.925 0.080 3 183650358 start lost T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs61263401
rs61263401
KRT14
2 0.925 0.080 17 41586480 missense variant T/C snv 0.700 0
dbSNP: rs57751134
rs57751134
KRT5
1 1.000 0.080 12 52519144 missense variant T/G snv 0.700 1.000 7 1993 2011