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: rs41274221
rs41274221
MCM7 ; MIR106B ; MIR25 ; MIR93
6 0.851 0.160 7 100093577 mature miRNA variant C/T snv 6.4E-05 4.9E-05 0.010 1.000 1 2016 2016
dbSNP: rs776880789
rs776880789
PGR ; PGR-AS1
4 0.925 0.080 11 101128241 missense variant G/C;T snv 4.7E-06; 4.7E-06 0.010 1.000 1 2006 2006
dbSNP: rs761872690
rs761872690
PGR ; PGR-AS1
3 0.925 0.080 11 101128246 synonymous variant G/A snv 2.8E-05 0.010 < 0.001 1 2004 2004
dbSNP: rs762471803
rs762471803
YAP1
6 0.925 0.040 11 102114201 missense variant T/G snv 0.010 1.000 1 2018 2018
dbSNP: rs1284806277
rs1284806277
MOK
13 0.827 0.200 14 102251978 missense variant A/G snv 1.4E-05 0.030 1.000 3 2011 2016
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: 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: rs3774937
rs3774937
NFKB1
9 0.776 0.280 4 102513096 intron variant T/C snv 0.26 0.010 1.000 1 2019 2019
dbSNP: rs200246209
rs200246209
MMP7
1 11 102527789 synonymous variant G/A snv 8.0E-06 1.4E-05 0.010 1.000 1 2010 2010
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: rs148626207
rs148626207
NFKB1 ; LOC105377347
1 4 102612593 missense variant T/C snv 8.0E-06 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.020 0.500 2 2009 2018
dbSNP: rs121434592
rs121434592
AKT1
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016
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: rs4946728
rs4946728
ATG5
3 1.000 0.120 6 106142488 intron variant A/C snv 0.72 0.010 1.000 1 2014 2014
dbSNP: rs1040411
rs1040411
ATG5
3 1.000 0.120 6 106150148 intron variant G/A snv 0.47 0.010 1.000 1 2014 2014
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: rs3206652
rs3206652
CD47
1 3 108046402 3 prime UTR variant T/C snv 0.27 0.010 1.000 1 2013 2013
dbSNP: rs9879947
rs9879947
CD47
1 3 108046545 3 prime UTR variant G/A snv 0.45 0.010 1.000 1 2013 2013
dbSNP: rs3804639
rs3804639
CD47
1 3 108071988 intron variant G/T snv 0.28 0.010 1.000 1 2013 2013
dbSNP: rs2536
rs2536
MTOR
11 0.776 0.240 1 11106656 3 prime UTR variant T/C snv 5.8E-02 0.010 1.000 1 2016 2016
dbSNP: rs1800544
rs1800544
ADRA2A
12 0.790 0.160 10 111076745 upstream gene variant G/C snv 0.59 0.010 1.000 1 2016 2016
dbSNP: rs684559
rs684559
CHI3L2
1 1 111215824 intron variant G/A snv 0.27 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
dbSNP: rs2230774
rs2230774
ROCK2
12 0.807 0.240 2 11218994 missense variant G/C;T snv 0.49 0.010 1.000 1 2010 2010