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: rs6489630
rs6489630
3 0.882 0.080 12 5495458 intron variant T/C snv 0.75 0.010 1.000 1 2012 2012
dbSNP: rs748703149
rs748703149
3 0.882 0.080 19 44908729 missense variant G/A;C;T snv 6.3E-06; 6.3E-06 0.010 < 0.001 1 2020 2020
dbSNP: rs766647311
rs766647311
3 0.882 0.080 6 41159841 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 < 0.001 1 2020 2020
dbSNP: rs767425642
rs767425642
ACE
3 0.882 0.120 17 63489010 missense variant G/A;T snv 3.2E-05; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs8126696
rs8126696
3 0.882 0.080 21 37358422 intron variant T/C snv 0.64 0.010 1.000 1 2012 2012
dbSNP: rs901115236
rs901115236
3 0.882 0.120 22 23767531 missense variant G/A;T snv 1.5E-05; 1.5E-05 0.010 1.000 1 2017 2017
dbSNP: rs9397456
rs9397456
3 0.882 0.160 6 151926017 intron variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs950530102
rs950530102
DST
3 0.882 0.160 6 56704357 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs1233347077
rs1233347077
4 0.851 0.160 19 44905894 missense variant G/C snv 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1401663578
rs1401663578
ACE
4 0.882 0.120 17 63483037 missense variant A/G snv 1.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs1801474
rs1801474
4 0.851 0.080 6 162201165 missense variant C/T snv 7.1E-02 5.3E-02 0.010 1.000 1 2020 2020
dbSNP: rs1997794
rs1997794
4 0.851 0.120 20 1994212 5 prime UTR variant T/C snv 0.50 0.010 1.000 1 2009 2009
dbSNP: rs223330
rs223330
4 0.851 0.160 4 102872502 intron variant T/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs2281983
rs2281983
4 0.851 0.080 10 102231624 missense variant G/A;C;T snv 0.62; 8.3E-06 0.010 1.000 1 2017 2017
dbSNP: rs571825723
rs571825723
4 0.925 0.080 14 73211867 missense variant C/T snv 4.4E-05 2.8E-05 0.010 1.000 1 2015 2015
dbSNP: rs6332
rs6332
4 0.851 0.080 12 5494466 synonymous variant G/A;T snv 0.49; 3.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs6347
rs6347
4 0.851 0.080 5 1411297 synonymous variant T/C snv 0.23 0.32 0.010 1.000 1 2012 2012
dbSNP: rs63750004
rs63750004
4 0.851 0.080 14 73173655 missense variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs763841075
rs763841075
GRN
4 0.851 0.120 17 44350293 missense variant T/C snv 1.8E-04 1.1E-04 0.010 1.000 1 2018 2018
dbSNP: rs763872192
rs763872192
4 0.882 0.080 7 80672000 missense variant C/T snv 2.8E-05 0.010 1.000 1 2017 2017
dbSNP: rs773819452
rs773819452
ECD
4 0.851 0.200 10 73160449 missense variant G/A snv 4.2E-06 0.010 1.000 1 2017 2017
dbSNP: rs910080
rs910080
4 0.851 0.120 20 1979580 3 prime UTR variant A/G snv 0.35 0.010 1.000 1 2009 2009
dbSNP: rs9331896
rs9331896
4 0.851 0.080 8 27610169 intron variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs9357347
rs9357347
4 0.851 0.080 6 41182853 intergenic variant A/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs63751011
rs63751011
4 0.925 0.120 17 46010418 intron variant C/T snv 0.700 0