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: rs1042838
rs1042838
PGR
12 0.742 0.240 11 101062681 missense variant C/A;G snv 0.13; 4.0E-06 0.060 0.667 6 2002 2020
dbSNP: rs10895068
rs10895068
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: rs590688
rs590688
PGR
2 0.925 0.080 11 101105243 intron variant C/G snv 0.47 0.020 1.000 2 2013 2020
dbSNP: rs1042839
rs1042839
PGR
2 0.925 0.080 11 101051471 synonymous variant G/A snv 0.13 0.11 0.010 1.000 1 2008 2008
dbSNP: rs10895054
rs10895054
PGR
2 0.925 0.080 11 101039579 intron variant A/T snv 0.11 0.010 1.000 1 2013 2013
dbSNP: rs11571149
rs11571149
2 0.925 0.080 11 101127937 missense variant G/T snv 0.010 1.000 1 2007 2007
dbSNP: rs1312187959
rs1312187959
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: rs1408080623
rs1408080623
5 0.851 0.080 11 101128058 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs3740753
rs3740753
2 0.925 0.080 11 101128040 missense variant C/G snv 0.13 0.12 0.010 1.000 1 2020 2020
dbSNP: rs376101426
rs376101426
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: rs500760
rs500760
PGR
3 0.882 0.120 11 101039260 synonymous variant T/C snv 0.24 0.29 0.010 1.000 1 2008 2008
dbSNP: rs518162
rs518162
2 0.925 0.080 11 101129770 5 prime UTR variant A/G snv 0.86 0.010 1.000 1 2008 2008
dbSNP: rs750042441
rs750042441
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: rs757679709
rs757679709
2 0.925 0.080 11 101129045 missense variant G/A;C snv 3.0E-05 0.010 1.000 1 2006 2006
dbSNP: rs761872690
rs761872690
3 0.925 0.080 11 101128246 synonymous variant G/A snv 2.8E-05 0.010 < 0.001 1 2004 2004
dbSNP: rs772873062
rs772873062
2 0.925 0.080 11 101128998 missense variant A/G snv 4.8E-06 0.010 1.000 1 2007 2007
dbSNP: rs775092033
rs775092033
2 0.925 0.080 11 101127471 missense variant G/C snv 0.010 1.000 1 2005 2005
dbSNP: rs776880789
rs776880789
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