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: rs121434570
rs121434570
ERCC5 ; BIVM-ERCC5
2 0.925 0.160 13 102872397 stop gained G/A;T snv 8.0E-06; 8.0E-06 0.700 1.000 1 1994 1994
dbSNP: rs1283214655
rs1283214655
ERCC5 ; BIVM-ERCC5
1 1.000 0.160 13 102862320 frameshift variant -/T delins 0.700 0
dbSNP: rs17655
rs17655
ERCC5 ; BIVM-ERCC5
52 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.010 1.000 1 2018 2018
dbSNP: rs770998368
rs770998368
ERCC5 ; BIVM-ERCC5
5 0.827 0.240 13 102861511 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs929424117
rs929424117
ERCC5 ; BIVM-ERCC5
2 0.925 0.160 13 102866645 missense variant T/C snv 4.0E-06 0.010 1.000 1 2019 2019