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: rs137853043
rs137853043
2 1.000 0.240 12 49185576 missense variant G/A;C snv 0.800 1.000 4 2007 2015
dbSNP: rs137853044
rs137853044
2 1.000 0.240 12 49185161 missense variant C/A;T snv 0.800 1.000 4 2007 2015
dbSNP: rs587784483
rs587784483
3 0.925 0.320 12 49185162 missense variant G/A;T snv 0.800 1.000 4 2007 2015
dbSNP: rs137853045
rs137853045
1 1.000 0.240 12 49185804 missense variant T/G snv 0.800 1.000 2 2007 2015
dbSNP: rs137853046
rs137853046
1 1.000 0.240 12 49185579 missense variant G/T snv 0.800 1.000 2 2007 2015
dbSNP: rs137853047
rs137853047
1 1.000 0.240 12 49185110 missense variant G/A snv 0.800 1.000 2 2007 2015
dbSNP: rs137853050
rs137853050
1 1.000 0.240 12 49185101 missense variant C/T snv 0.700 1.000 2 2008 2010
dbSNP: rs1555162325
rs1555162325
2 0.925 0.240 12 49185446 missense variant G/A snv 0.700 1.000 1 2018 2018
dbSNP: rs1565627727
rs1565627727
1 1.000 0.240 12 49186670 missense variant G/A snv 0.700 1.000 1 2014 2014
dbSNP: rs753719501
rs753719501
1 1.000 0.240 12 49185142 stop gained G/A;T snv 1.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs797045005
rs797045005
4 0.851 0.320 12 49185140 missense variant A/G snv 0.700 1.000 1 2008 2008
dbSNP: rs1057517843
rs1057517843
2 1.000 0.240 12 49185725 missense variant C/A;T snv 0.700 0
dbSNP: rs1057517858
rs1057517858
3 0.925 0.240 12 49185714 missense variant C/A;T snv 0.700 0
dbSNP: rs1064796460
rs1064796460
8 0.790 0.400 12 49185197 missense variant C/G;T snv 0.700 0
dbSNP: rs137853048
rs137853048
1 1.000 0.240 12 49185176 missense variant A/G snv 0.700 0
dbSNP: rs137853049
rs137853049
2 1.000 0.240 12 49185102 missense variant G/A snv 0.700 0
dbSNP: rs1555162242
rs1555162242
1 1.000 0.240 12 49185062 missense variant A/G snv 0.700 0
dbSNP: rs1555162294
rs1555162294
1 1.000 0.240 12 49185222 missense variant T/C snv 0.700 0
dbSNP: rs1555162456
rs1555162456
1 1.000 0.240 12 49186317 missense variant C/T snv 0.700 0
dbSNP: rs1565627072
rs1565627072
1 1.000 0.240 12 49185404 missense variant C/T snv 0.700 0
dbSNP: rs1565627513
rs1565627513
1 1.000 0.240 12 49186364 missense variant G/C snv 0.700 0
dbSNP: rs1565627707
rs1565627707
3 0.925 0.240 12 49186657 missense variant C/A snv 0.700 0
dbSNP: rs387906840
rs387906840
2 0.925 0.240 12 49186824 missense variant T/G snv 0.700 0
dbSNP: rs587784481
rs587784481
1 1.000 0.240 12 49185237 missense variant T/C snv 0.700 0
dbSNP: rs587784482
rs587784482
2 0.925 0.240 12 49185218 missense variant G/A;T snv 0.700 0