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: rs1242579404
rs1242579404
ERCC5 ; BIVM-ERCC5
1 1.000 0.240 13 102853837 frameshift variant ACAAG/- delins 4.0E-06 0.700 0
dbSNP: rs121913045
rs121913045
ERCC3
3 0.882 0.240 2 127292785 missense variant A/G snv 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs121913046
rs121913046
ERCC3
3 0.882 0.240 2 127292726 missense variant T/G snv 0.010 1.000 1 1999 1999
dbSNP: rs747619345
rs747619345
ERCC2
2 0.925 0.240 19 45365151 missense variant G/A snv 8.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs750323550
rs750323550
GTF2H4
2 0.925 0.240 6 30909503 missense variant C/T snv 0.010 1.000 1 1999 1999
dbSNP: rs900744746
rs900744746
GTF2H3
2 0.925 0.240 12 123651048 missense variant C/T snv 0.010 1.000 1 1999 1999