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: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1805124
rs1805124
16 0.742 0.280 3 38603929 missense variant T/C snv 0.22 0.25 0.010 1.000 1 2008 2008
dbSNP: rs6599230
rs6599230
1 1.000 0.080 3 38633221 synonymous variant T/A;C snv 0.77 0.010 1.000 1 2008 2008
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 2010 2010
dbSNP: rs121434284
rs121434284
IVD
2 0.925 0.080 15 40405952 missense variant T/C snv 0.700 1.000 6 1991 2017
dbSNP: rs121434285
rs121434285
IVD
2 0.925 0.080 15 40411600 missense variant G/T snv 8.0E-06; 8.0E-06 2.1E-05 0.700 1.000 6 1991 2017
dbSNP: rs754600862
rs754600862
IVD
1 1.000 0.080 15 40416336 missense variant T/C snv 8.0E-06 7.0E-06 0.700 1.000 6 1991 2017
dbSNP: rs760822119
rs760822119
IVD
1 1.000 0.080 15 40416293 missense variant T/C snv 4.0E-06 0.700 1.000 6 1991 2017
dbSNP: rs398123683
rs398123683
IVD
1 1.000 0.080 15 40410799 splice donor variant T/C snv 2.0E-05 1.4E-05 0.700 1.000 5 2000 2014
dbSNP: rs34695403
rs34695403
IVD
1 1.000 0.080 15 40407639 missense variant C/G;T snv 2.4E-05; 1.2E-05 0.700 1.000 3 2000 2007
dbSNP: rs786204427
rs786204427
IVD
1 1.000 0.080 15 40411257 splice acceptor variant CA/GG mnv 0.700 1.000 3 2000 2011
dbSNP: rs786204613
rs786204613
IVD
1 1.000 0.080 15 40418168 frameshift variant T/- delins 0.700 1.000 3 1991 2012
dbSNP: rs1555404784
rs1555404784
IVD
1 1.000 0.080 15 40414888 splice acceptor variant G/A snv 0.700 1.000 2 1998 2000
dbSNP: rs373594717
rs373594717
IVD
1 1.000 0.080 15 40405819 start lost A/C;G;T snv 4.0E-06; 4.0E-06 0.700 1.000 2 1990 1992
dbSNP: rs566691073
rs566691073
IVD
1 1.000 0.080 15 40405820 start lost T/C;G snv 1.6E-05 7.0E-06 0.700 1.000 2 1990 1992
dbSNP: rs769048174
rs769048174
IVD
1 1.000 0.080 15 40410722 frameshift variant T/- del 7.0E-06 0.700 1.000 2 2000 2013
dbSNP: rs771914739
rs771914739
IVD
1 1.000 0.080 15 40411258 splice acceptor variant A/C;G snv 4.0E-06; 8.0E-06 0.700 1.000 2 2000 2007
dbSNP: rs1398838997
rs1398838997
IVD
1 1.000 0.080 15 40410627 splice acceptor variant G/A snv 3.5E-05 0.700 1.000 1 2006 2006
dbSNP: rs1555405428
rs1555405428
IVD
1 1.000 0.080 15 40418219 frameshift variant GGCGGCTGGTCATCGGCAGAGCCTTCAA/- delins 0.700 1.000 1 2000 2000
dbSNP: rs759159766
rs759159766
IVD
1 1.000 0.080 15 40414968 frameshift variant -/G delins 1.2E-05; 8.0E-06 7.0E-06 0.700 1.000 1 2000 2000
dbSNP: rs763422682
rs763422682
IVD
1 1.000 0.080 15 40418196 missense variant T/C snv 8.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs776015412
rs776015412
IVD
1 1.000 0.080 15 40410690 stop gained C/T snv 1.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs796051983
rs796051983
IVD
1 1.000 0.080 15 40415412 missense variant C/T snv 8.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs1057516769
rs1057516769
IVD
1 1.000 0.080 15 40413046 frameshift variant -/T delins 0.700 0
dbSNP: rs1057517043
rs1057517043
IVD
1 1.000 0.080 15 40411554 splice acceptor variant G/A snv 0.700 0