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: rs77375493
rs77375493
JAK2 ; INSL6
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 < 0.001 1 2010 2010
dbSNP: rs775174909
rs775174909
XRCC1
1 1.000 0.080 19 43546720 missense variant T/C snv 4.1E-06 0.010 1.000 1 2010 2010
dbSNP: rs886054499
rs886054499
ERCC2
1 1.000 0.080 19 45364860 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs9340799
rs9340799
ESR1
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.010 1.000 1 2011 2011