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: rs12720742
rs12720742
ACE
1 1.000 0.040 17 63496923 missense variant C/G;T snv 2.4E-05; 3.2E-04 0.020 1.000 2 1998 2004
dbSNP: rs2960306
rs2960306
1 1.000 0.040 4 2988772 missense variant G/A;T snv 4.8E-05; 0.32 0.020 1.000 2 2006 2016
dbSNP: rs5194
rs5194
1 1.000 0.040 X 116173577 3 prime UTR variant A/G snv 0.020 0.500 2 2006 2014
dbSNP: rs10199956
rs10199956
1 1.000 0.040 2 237907946 intron variant T/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs1047047
rs1047047
1 1.000 0.040 1 42153468 synonymous variant A/C;G;T snv 6.4E-05; 0.21; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs11542844
rs11542844
1 1.000 0.040 12 6355415 missense variant C/T snv 7.9E-02 0.17 0.010 1.000 1 2008 2008
dbSNP: rs11559300
rs11559300
1 1.000 0.040 1 84506076 missense variant T/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs11959427
rs11959427
1 1.000 0.040 5 148826465 5 prime UTR variant C/T snv 0.68 0.010 < 0.001 1 2015 2015
dbSNP: rs1221928144
rs1221928144
ACE
1 1.000 0.040 17 63477950 missense variant G/A;C snv 8.2E-06 0.010 1.000 1 2007 2007
dbSNP: rs12502572
rs12502572
1 1.000 0.040 4 140563980 intron variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs12708965
rs12708965
1 1.000 0.040 16 56902407 missense variant C/T snv 3.1E-02 3.5E-02 0.010 1.000 1 2007 2007
dbSNP: rs12731181
rs12731181
1 1.000 0.040 1 78536904 3 prime UTR variant A/G snv 0.16 0.010 1.000 1 2015 2015
dbSNP: rs12999364
rs12999364
1 1.000 0.040 2 102357669 intron variant C/T snv 0.31 0.010 1.000 1 2017 2017
dbSNP: rs13093
rs13093
1 1.000 0.040 1 84506286 5 prime UTR variant G/A;C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs13306425
rs13306425
1 1.000 0.040 16 67435802 missense variant G/A snv 2.0E-04 1.8E-04 0.010 1.000 1 2006 2006
dbSNP: rs13312756
rs13312756
1 1.000 0.040 12 4378431 intron variant G/C snv 3.3E-02 0.010 1.000 1 2018 2018
dbSNP: rs1359041359
rs1359041359
1 1.000 0.040 19 48636949 missense variant C/G snv 1.4E-05 0.010 1.000 1 2004 2004
dbSNP: rs1454007558
rs1454007558
1 1.000 0.040 1 34795038 synonymous variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs1529927
rs1529927
1 1.000 0.040 16 56870675 missense variant C/G snv 1.6E-05; 0.98 0.98 0.010 1.000 1 2004 2004
dbSNP: rs16932941
rs16932941
1 1.000 0.040 12 6845700 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs16960228
rs16960228
1 1.000 0.040 17 66792709 intron variant G/A snv 0.13 0.010 1.000 1 2013 2013
dbSNP: rs17197
rs17197
1 1.000 0.040 14 52327663 3 prime UTR variant G/A snv 0.78 0.010 1.000 1 2007 2007
dbSNP: rs17479770
rs17479770
1 1.000 0.040 2 224471097 3 prime UTR variant T/C snv 0.24 0.010 1.000 1 2017 2017
dbSNP: rs17881426
rs17881426
1 1.000 0.040 4 24797878 intron variant T/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs1847018
rs1847018
1 1.000 0.040 5 32714555 intron variant C/T snv 0.12 0.010 1.000 1 2015 2015