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: rs121917887
rs121917887
NME1 ; NME1-NME2
10 0.790 0.120 17 51161744 missense variant A/G snv 6.0E-05 7.0E-05 0.020 1.000 2 2001 2004
dbSNP: rs172378
rs172378
C1QA
11 0.790 0.240 1 22638945 synonymous variant A/G snv 0.49 0.51 0.020 1.000 2 2006 2010
dbSNP: rs17576
rs17576
MMP9
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.020 1.000 2 2005 2010
dbSNP: rs1049074086
rs1049074086
CTSD
9 0.925 0.120 11 1759567 missense variant A/G snv 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1156560901
rs1156560901
CDK15
2 2 201880120 missense variant A/G snv 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs11662595
rs11662595
HRH4
7 0.882 0.120 18 24477006 missense variant A/G snv 8.6E-02 7.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs121909222
rs121909222
PTEN
13 0.742 0.240 10 87933127 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs1284410244
rs1284410244
VEGFA
4 0.925 0.040 6 43778482 missense variant A/G snv 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs13387042
rs13387042
LOC101928278 ; LOC105373874
16 0.732 0.280 2 217041109 intergenic variant A/G snv 0.44 0.010 1.000 1 2012 2012
dbSNP: rs1347591
rs1347591
NUP93
2 1.000 0.080 16 56834788 intron variant A/G snv 0.47 0.47 0.010 1.000 1 2019 2019
dbSNP: rs137852578
rs137852578
AR
10 0.827 0.080 X 67723710 missense variant A/G snv 0.010 1.000 1 2002 2002
dbSNP: rs147574894
rs147574894
NFKB1 ; LOC105377347
4 0.925 0.080 4 102600911 missense variant A/G snv 9.6E-05 3.9E-04 0.010 1.000 1 2019 2019
dbSNP: rs1536309
rs1536309
MIR146B
7 0.851 0.160 10 102435445 upstream gene variant A/G snv 0.32 0.010 1.000 1 2018 2018
dbSNP: rs1570360
rs1570360
VEGFA
38 0.641 0.680 6 43770093 upstream gene variant A/G snv 0.76 0.010 1.000 1 2017 2017
dbSNP: rs16940
rs16940
BRCA1
5 0.882 0.080 17 43093220 synonymous variant A/G snv 0.35 0.29 0.010 1.000 1 2014 2014
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
78 0.547 0.760 19 41354391 intron variant A/G snv 0.69 0.010 1.000 1 2019 2019
dbSNP: rs1800625
rs1800625
AGER ; PBX2
39 0.641 0.680 6 32184665 upstream gene variant A/G snv 0.15 0.010 1.000 1 2017 2017
dbSNP: rs2494752
rs2494752
AKT1
10 0.790 0.120 14 104797271 upstream gene variant A/G snv 0.85 0.010 1.000 1 2018 2018
dbSNP: rs2981582
rs2981582
FGFR2
21 0.695 0.360 10 121592803 intron variant A/G snv 0.58 0.010 1.000 1 2012 2012
dbSNP: rs3804329
rs3804329
ATG5
2 1.000 0.080 6 106238552 intron variant A/G snv 0.15 0.010 1.000 1 2017 2017
dbSNP: rs6218
rs6218
IGF1 ; HELLPAR ; LINC02456
13 0.732 0.440 12 102399855 3 prime UTR variant A/G snv 2.1E-02 0.010 1.000 1 2017 2017
dbSNP: rs723526
rs723526
EGFR
2 1.000 7 55067126 intron variant A/G snv 0.86 0.010 1.000 1 2013 2013
dbSNP: rs759478535
rs759478535
ERBB2
6 0.851 0.080 17 39708351 missense variant A/G snv 6.8E-05 4.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs79036859
rs79036859
DAAM1
3 0.925 0.080 14 59369257 3 prime UTR variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs899706404
rs899706404
SDHD ; TIMM8B
3 0.925 0.040 11 112087944 missense variant A/G snv 0.010 1.000 1 2008 2008