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: rs13180356
rs13180356
XRCC4
2 0.925 0.080 5 83100055 intron variant C/T snv 0.18 0.010 1.000 1 2015 2015
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.010 1.000 1 2007 2007
dbSNP: rs2279744
rs2279744
MDM2
48 0.605 0.640 12 68808800 intron variant T/G snv 0.31 0.010 1.000 1 2012 2012
dbSNP: rs3088440
rs3088440
CDKN2A ; CDKN2A-DT
12 0.776 0.240 9 21968160 3 prime UTR variant G/A snv 0.13 0.010 1.000 1 2012 2012
dbSNP: rs3748522
rs3748522
RAD52
2 0.925 0.080 12 949522 5 prime UTR variant A/C snv 0.49 0.010 1.000 1 2015 2015