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: rs2234693
rs2234693
ESR1
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.010 1.000 1 2011 2011
dbSNP: rs676033
rs676033
SRD5A2
3 0.882 0.080 2 31583901 upstream gene variant T/C snv 0.69 0.010 1.000 1 2015 2015
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: rs4149117
rs4149117
SLCO1B3 ; SLCO1B3-SLCO1B7
15 0.763 0.360 12 20858546 missense variant T/C;G snv 0.81 0.010 1.000 1 2013 2013