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: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2019 2019
dbSNP: rs1799889
rs1799889
SERPINE1
31 0.649 0.600 7 101126430 upstream gene variant A/G snv 0.010 1.000 1 2010 2010
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 < 0.001 1 2016 2016
dbSNP: rs1872328
rs1872328
ACYP2
6 0.827 0.120 2 54168122 intron variant G/A snv 7.3E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs2293275
rs2293275
LHCGR ; GTF2A1L ; STON1-GTF2A1L
4 0.851 0.160 2 48694236 missense variant T/C snv 0.61 0.51 0.010 1.000 1 2012 2012
dbSNP: rs62283056
rs62283056
WFS1
3 0.882 0.280 4 6274903 intron variant G/C snv 0.20 0.010 < 0.001 1 2018 2018