Gene: ERCC5 ×
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: rs121434572
rs121434572
ERCC5 ; BIVM-ERCC5
1 1.000 0.240 13 102861621 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs121434573
rs121434573
ERCC5 ; BIVM-ERCC5
1 1.000 0.240 13 102856110 stop gained C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs121434574
rs121434574
ERCC5 ; BIVM-ERCC5
2 0.925 0.240 13 102852244 missense variant C/A;T snv 4.0E-06 0.700 0