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: rs104894226
rs104894226
HRAS ; LRRC56
29 0.658 0.560 11 534285 missense variant C/A;G;T snv 0.700 1.000 1 2005 2005
dbSNP: rs1057518788
rs1057518788
DSG1
2 0.925 0.120 18 31331787 stop gained G/T snv 0.700 0
dbSNP: rs1114167422
rs1114167422
DKC1 ; SNORA56
11 0.776 0.320 X 154773148 missense variant A/G snv 0.700 0
dbSNP: rs1182196436
rs1182196436
DSG1
2 0.925 0.120 18 31326922 stop gained C/A;T snv 0.700 0
dbSNP: rs761241711
rs761241711
DSG1
2 0.925 0.080 18 31336524 stop gained T/C;G snv 1.1E-04 0.700 0
dbSNP: rs60399023
rs60399023
KRT14
5 0.827 0.200 17 41586462 missense variant G/A;C snv 0.010 1.000 1 2004 2004