Disease: Xeroderma pigmentosum, group A
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs13181
KLC3 ; ERCC2
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs1799793
ERCC2
0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs1805329
RAD23B
0.732 0.400 9 107322047 missense variant C/T snv 0.20 0.16 15
rs776223836
ERCC2
0.763 0.280 19 45364045 missense variant G/A snv 11
rs767551092
XPC
0.790 0.200 3 14164838 missense variant G/A snv 4.0E-06 10
rs778990691
CCNH
0.807 0.240 5 87395069 missense variant A/G snv 4.0E-06 6
rs1402607735
PINLYP ; XRCC1
0.925 0.160 19 43575436 missense variant T/C snv 4.0E-06 2