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: rs121912476
rs121912476
KRT5
2 1.000 12 52516824 missense variant C/T snv 1.2E-05 1.4E-05 0.800 1.000 1 2002 2002
dbSNP: rs57121345
rs57121345
KRT14
2 0.925 0.080 17 41586404 missense variant T/G snv 0.800 1.000 1 1993 1993
dbSNP: rs59115483
rs59115483
KRT5
4 0.882 0.080 12 52519789 missense variant C/T snv 2.4E-05 7.0E-06 0.800 1.000 1 2002 2002
dbSNP: rs200779504
rs200779504
KRT14
1 1.000 17 41585059 splice acceptor variant T/G snv 1.6E-05 1.4E-05 0.700 0
dbSNP: rs57278315
rs57278315
KRT14
1 1.000 17 41586521 frameshift variant GC/- del 0.700 0
dbSNP: rs57358989
rs57358989
KRT14
2 0.925 0.080 17 41586478 missense variant C/T snv 0.700 0
dbSNP: rs58072617
rs58072617
KRT5
7 0.790 0.120 12 52517702 missense variant A/G;T snv 0.700 0
dbSNP: rs60231560
rs60231560
KRT14
1 1.000 17 41586743 frameshift variant A/- del 1.0E-05 0.700 0
dbSNP: rs60725382
rs60725382
KRT14
1 1.000 17 41584410 stop gained A/G;T snv 4.0E-06; 4.0E-06 0.700 0