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: rs764731249
rs764731249
ERCC4
1 1.000 0.160 16 13928118 missense variant A/G snv 4.0E-06 0.700 1.000 4 1996 1999
dbSNP: rs769679311
rs769679311
ERCC4
1 1.000 0.160 16 13935469 missense variant G/A snv 4.0E-06 0.700 1.000 4 1996 1999
dbSNP: rs1799798
rs1799798
ERCC4
1 1.000 0.160 16 13920421 intron variant G/A snv 0.12 7.7E-02 0.010 < 0.001 1 2014 2014
dbSNP: rs180067
rs180067
LINC01497
1 1.000 0.160 17 69961633 non coding transcript exon variant G/A;C;T snv 0.010 < 0.001 1 2013 2013
dbSNP: rs869025184
rs869025184
ERCC4
1 1.000 0.160 16 13947896 frameshift variant TCTC/- delins 0.700 0
dbSNP: rs912480692
rs912480692
ERCC4
1 1.000 0.160 16 13935401 missense variant G/A snv 0.700 0