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: rs1554875154
rs1554875154
ERCC6
3 0.882 0.400 10 49470332 frameshift variant -/A delins 0.700 0
dbSNP: rs786205173
rs786205173
ERCC6
1 1.000 0.160 10 49470347 frameshift variant -/A ins 0.700 0
dbSNP: rs797045562
rs797045562
ERCC6 ; PGBD3
1 1.000 0.160 10 49524579 frameshift variant -/A ins 0.700 0
dbSNP: rs786205172
rs786205172
ERCC6
3 0.882 0.400 10 49470352 frameshift variant -/AAGGTGGACCTTAAGCAGCCAGCCCT delins 7.0E-06 0.700 1.000 1 1998 1998
dbSNP: rs1554794641
rs1554794641
ERCC6
3 0.882 0.400 10 49532757 frameshift variant -/C delins 0.700 0
dbSNP: rs786205167
rs786205167
ERCC6
1 1.000 0.160 10 49483487 frameshift variant -/C delins 0.700 0
dbSNP: rs1386369933
rs1386369933
ERCC6
3 0.882 0.400 10 49461463 frameshift variant -/G delins 7.0E-06 0.700 0
dbSNP: rs774791374
rs774791374
ERCC6
3 0.882 0.400 10 49482759 frameshift variant -/G delins 0.700 0
dbSNP: rs1254008304
rs1254008304
ERCC6 ; PGBD3
3 0.882 0.400 10 49524649 frameshift variant -/GG delins 7.0E-06 0.700 0
dbSNP: rs387906262
rs387906262
ERCC6 ; PGBD3
1 1.000 0.160 10 49524457 frameshift variant -/T delins 0.700 0
dbSNP: rs786205170
rs786205170
ERCC6
3 0.882 0.400 10 49470547 frameshift variant -/T delins 0.700 0
dbSNP: rs1287286877
rs1287286877
ERCC6
3 0.882 0.400 10 49470367 frameshift variant -/TC delins 4.0E-06 0.700 1.000 1 2010 2010
dbSNP: rs786205166
rs786205166
ERCC6 ; PGBD3
1 1.000 0.160 10 49524150 frameshift variant A/-;AA delins 0.700 0
dbSNP: rs368728467
rs368728467
ERCC6
1 1.000 0.160 10 49474074 missense variant A/G;T snv 0.800 1.000 5 1998 2017
dbSNP: rs1554873950
rs1554873950
ERCC6
3 0.882 0.400 10 49460371 splice donor variant A/T snv 0.700 0
dbSNP: rs1554874073
rs1554874073
ERCC6
3 0.882 0.400 10 49461378 frameshift variant C/- delins 0.700 1.000 1 2016 2016
dbSNP: rs786205168
rs786205168
ERCC6
1 1.000 0.160 10 49505892 frameshift variant C/- del 0.700 1.000 1 1998 1998
dbSNP: rs875989810
rs875989810
ERCC6
4 0.851 0.400 10 49528426 stop gained C/A snv 0.700 1.000 2 2015 2017
dbSNP: rs1554793270
rs1554793270
ERCC6 ; PGBD3
3 0.882 0.400 10 49524295 stop gained C/A snv 0.700 1.000 1 2010 2010
dbSNP: rs371739894
rs371739894
ERCC6
2 0.925 0.400 10 49505883 splice donor variant C/A snv 1.2E-05 2.1E-05 0.700 0
dbSNP: rs766980240
rs766980240
ERCC6
3 0.882 0.400 10 49459235 splice acceptor variant C/G snv 2.0E-05 0.700 1.000 1 2010 2010
dbSNP: rs1554793174
rs1554793174
ERCC6 ; PGBD3
3 0.882 0.400 10 49524032 splice donor variant C/G snv 0.700 0
dbSNP: rs1554875114
rs1554875114
ERCC6
3 0.882 0.400 10 49470181 splice donor variant C/G snv 0.700 0
dbSNP: rs751292948
rs751292948
ERCC6
1 1.000 0.160 10 49482798 stop gained C/G;T snv 4.0E-06 0.800 1.000 5 1998 2017
dbSNP: rs1198472093
rs1198472093
ERCC6
3 0.882 0.400 10 49532542 splice donor variant C/G;T snv 8.0E-06 2.1E-05 0.700 0