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: rs775092033
rs775092033
PGR ; PGR-AS1
2 0.925 0.080 11 101127471 missense variant G/C snv 0.010 1.000 1 2005 2005
dbSNP: rs11571149
rs11571149
PGR ; PGR-AS1
2 0.925 0.080 11 101127937 missense variant G/T snv 0.010 1.000 1 2007 2007
dbSNP: rs3740753
rs3740753
PGR ; PGR-AS1
2 0.925 0.080 11 101128040 missense variant C/G snv 0.13 0.12 0.010 1.000 1 2020 2020
dbSNP: rs1408080623
rs1408080623
PGR ; PGR-AS1
5 0.851 0.080 11 101128058 missense variant G/A snv 0.010 1.000 1 2015 2015
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 < 0.001 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: rs750042441
rs750042441
PGR ; PGR-AS1
5 0.827 0.160 11 101128367 missense variant G/A;C snv 6.1E-05; 4.3E-06 0.010 1.000 1 2006 2006
dbSNP: rs1312187959
rs1312187959
PGR ; PGR-AS1
2 0.925 0.080 11 101128554 missense variant C/T snv 1.4E-05 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs376101426
rs376101426
PGR ; PGR-AS1
2 0.925 0.080 11 101128556 missense variant A/G snv 1.4E-05 2.8E-05 0.010 1.000 1 2005 2005
dbSNP: rs772873062
rs772873062
PGR ; PGR-AS1
2 0.925 0.080 11 101128998 missense variant A/G snv 4.8E-06 0.010 1.000 1 2007 2007
dbSNP: rs757679709
rs757679709
PGR ; PGR-AS1
2 0.925 0.080 11 101129045 missense variant G/A;C snv 3.0E-05 0.010 1.000 1 2006 2006
dbSNP: rs10895068
rs10895068
PGR ; PGR-AS1
14 0.752 0.240 11 101129483 5 prime UTR variant C/T snv 3.6E-02 0.040 1.000 4 2008 2020
dbSNP: rs518162
rs518162
PGR ; PGR-AS1
2 0.925 0.080 11 101129770 5 prime UTR variant A/G snv 0.86 0.010 1.000 1 2008 2008
dbSNP: rs763351020
rs763351020
SERPINE1
35 0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs9874
rs9874
SELENOS
2 0.925 0.080 15 101271199 3 prime UTR variant T/C snv 0.23 0.010 1.000 1 2013 2013
dbSNP: rs2850328
rs2850328
PPP3CA ; FLJ20021
2 0.925 0.080 4 101347783 non coding transcript exon variant T/C;G snv 0.010 1.000 1 2011 2011
dbSNP: rs61697963
rs61697963
SENP7
2 0.925 0.080 3 101458800 intron variant A/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs514192
rs514192
LOC107986961
1 1.000 0.080 8 101466731 intron variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs16405
rs16405
BTRC
4 0.882 0.120 10 101553963 3 prime UTR variant AACAGTGGA/- del 0.31 0.010 1.000 1 2015 2015
dbSNP: rs2228611
rs2228611
DNMT1
19 0.708 0.520 19 10156401 synonymous variant T/A;C snv 0.52 0.020 1.000 2 2017 2017
dbSNP: rs3730477
rs3730477
DPCD ; POLL
4 0.925 0.080 10 101580299 missense variant G/A snv 0.17 0.16 0.010 1.000 1 2016 2016
dbSNP: rs16999593
rs16999593
DNMT1
14 0.742 0.240 19 10180505 missense variant T/C snv 2.4E-02 9.6E-03 0.020 1.000 2 2012 2017
dbSNP: rs71559437
rs71559437
CUX1
1 1.000 0.080 7 101909160 intron variant G/A snv 8.5E-02 0.700 1.000 1 2017 2017
dbSNP: rs10490571
rs10490571
IL1R1
5 0.827 0.320 2 102100877 intron variant C/T snv 0.29 0.020 1.000 2 2018 2019
dbSNP: rs1820453
rs1820453
YAP1
2 0.925 0.080 11 102109604 non coding transcript exon variant C/A snv 0.54 0.010 1.000 1 2013 2013