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: 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: rs398123681
rs398123681
IVD
1 1.000 0.080 15 40418174 stop gained C/G;T snv 4.0E-06; 1.2E-05 0.700 0
dbSNP: rs765815516
rs765815516
IVD
1 1.000 0.080 15 40407723 stop gained C/T snv 8.0E-06 1.4E-05 0.700 0
dbSNP: rs907414760
rs907414760
IVD
1 1.000 0.080 15 40405871 stop gained G/A;C snv 7.0E-06 0.700 0
dbSNP: rs28940889
rs28940889
IVD
1 1.000 0.080 15 40415454 missense variant C/T snv 6.4E-04 7.5E-04 0.800 1.000 10 1991 2017
dbSNP: rs2229311
rs2229311
IVD
1 1.000 0.080 15 40407640 missense variant G/A;C;T snv 2.8E-05; 1.6E-05; 4.0E-06 0.800 1.000 9 1998 2017
dbSNP: rs773560012
rs773560012
IVD
1 1.000 0.080 15 40418190 missense variant A/G snv 1.6E-05 7.0E-06 0.800 1.000 9 1991 2017
dbSNP: rs142761835
rs142761835
IVD
1 1.000 0.080 15 40410699 missense variant G/A snv 2.8E-05 1.3E-04 0.800 1.000 8 1991 2017
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: rs371427844
rs371427844
IVD
1 1.000 0.080 15 40418165 missense variant C/T snv 4.0E-06 4.2E-05 0.800 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: 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: rs1477527791
rs1477527791
IVD
1 1.000 0.080 15 40418175 missense variant G/A snv 1.4E-05 0.800 1.000 2 2012 2014
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
SCN5A
16 0.742 0.280 3 38603929 missense variant T/C snv 0.22 0.25 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: 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: 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: rs367814475
rs367814475
IVD
9 0.925 0.080 15 40415482 missense variant G/C;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs398123679
rs398123679
IVD
1 1.000 0.080 15 40416290 missense variant G/A snv 0.700 0
dbSNP: rs747273828
rs747273828
IVD
1 1.000 0.080 15 40407696 missense variant G/A;C snv 2.4E-05 2.1E-05 0.700 0
dbSNP: rs886042098
rs886042098
IVD
1 1.000 0.080 15 40414967 missense variant C/T snv 0.700 0
dbSNP: rs982218848
rs982218848
IVD
1 1.000 0.080 15 40418166 missense variant G/A snv 1.2E-05 2.1E-05 0.700 0