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: rs10458894
rs10458894
STIM1
1 11 3892042 intron variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs11466414
rs11466414
TGFB3 ; IFT43
1 14 75981507 non coding transcript exon variant G/A snv 4.7E-02 0.010 1.000 1 2009 2009
dbSNP: rs12710567
rs12710567
AGTR2
1 X 116170599 upstream gene variant T/C snv 3.2E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs1643821
rs1643821
ESR1
2 6 151862416 intron variant G/A snv 0.46 0.010 1.000 1 2008 2008
dbSNP: rs7945554
rs7945554
STIM1
1 11 3857748 intron variant G/A snv 0.37 0.010 1.000 1 2018 2018
dbSNP: rs988328
rs988328
ESR1
1 6 151920015 intron variant T/C snv 0.15 0.010 1.000 1 2008 2008
dbSNP: rs41511344
rs41511344
NR3C2
5 0.882 0.040 4 148152550 stop gained G/A;T snv 0.020 0.500 2 2004 2011
dbSNP: rs2234681
rs2234681
MMP9
2 1.000 0.040 20 46008773 upstream gene variant ACACACACACACACACACACACAC/-;AC;ACAC;ACACAC;ACACACAC;ACACACACAC;ACACACACACAC;ACACACACACACAC;ACACACACACACACAC;ACACACACACACACACAC;ACACACACACACACACACAC;ACACACACACACACACACACAC;ACACACACACACACACACACACACAC;ACACACACACACACACACACACACACAC;ACACACACACACACACACACACACACACAC;ACACACACACACACACACACACACACACACAC;ACACACACACACACACACACACACACACACACAC delins 0.010 1.000 1 2012 2012
dbSNP: rs3801266
rs3801266
NAMPT
3 0.925 0.080 7 106283804 intron variant T/C snv 0.26 0.020 1.000 2 2015 2017
dbSNP: rs142724505
rs142724505
EXOSC4
2 1.000 0.080 8 144080528 missense variant G/A snv 1.8E-03 1.7E-03 0.010 1.000 1 2010 2010
dbSNP: rs2235543
rs2235543
HSD11B1 ; HSD11B1-AS1
4 0.925 0.080 1 209687323 intron variant T/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs757574299
rs757574299
LEPR
2 1.000 0.080 1 65570511 missense variant C/G snv 1.6E-05 1.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs1319501
rs1319501
NAMPT
4 0.882 0.120 7 106285307 intron variant C/A;T snv 0.76 0.020 1.000 2 2015 2017
dbSNP: rs2881766
rs2881766
ESR1
5 0.882 0.120 6 151797984 intron variant T/G snv 0.35 0.010 1.000 1 2008 2008
dbSNP: rs370402227
rs370402227
NOS3
4 0.925 0.120 7 150996443 missense variant G/A;C snv 1.1E-05 0.010 1.000 1 2003 2003
dbSNP: rs2016347
rs2016347
IGF1R
9 0.790 0.160 15 98960571 3 prime UTR variant G/A;T snv 0.020 1.000 2 2014 2017
dbSNP: rs2074192
rs2074192
ACE2
9 0.827 0.160 X 15564667 intron variant C/T snv 0.40 0.010 < 0.001 1 2018 2018
dbSNP: rs846910
rs846910
HSD11B1 ; HSD11B1-AS1
6 0.882 0.160 1 209701909 intron variant A/G snv 0.95 0.010 1.000 1 2013 2013
dbSNP: rs2070584
rs2070584
SYN1 ; TIMP1 ; MIR4769
8 0.790 0.200 X 47587120 intron variant T/G snv 0.44 0.010 1.000 1 2014 2014
dbSNP: rs2779249
rs2779249
NOS2
7 0.851 0.200 17 27801555 intron variant C/A snv 0.33 0.010 1.000 1 2012 2012
dbSNP: rs1177506410
rs1177506410
AGT
12 0.776 0.240 1 230706148 missense variant G/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs1275805226
rs1275805226
AGT
12 0.776 0.240 1 230706148 frameshift variant G/- del 7.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs3957357
rs3957357
GSTA1
7 0.807 0.280 6 52803889 upstream gene variant A/G snv 0.63 0.010 1.000 1 2015 2015
dbSNP: rs2740574
rs2740574
CYP3A4
12 0.807 0.360 7 99784473 upstream gene variant C/T snv 0.78 0.010 < 0.001 1 2010 2010
dbSNP: rs6471
rs6471
CYP21A2
24 0.683 0.360 6 32040110 missense variant G/A;C;T snv 1.2E-05; 5.3E-03 0.010 < 0.001 1 2010 2010