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: rs104894867
rs104894867
1 1.000 0.160 X 43949932 missense variant C/A;G;T snv 1.2E-05; 2.4E-05 0.800 1.000 20 1992 2010
dbSNP: rs104894868
rs104894868
1 1.000 0.160 X 43949977 missense variant G/C snv 0.800 1.000 20 1992 2010
dbSNP: rs104894869
rs104894869
1 1.000 0.160 X 43950022 missense variant A/T snv 0.800 1.000 20 1992 2010
dbSNP: rs104894870
rs104894870
1 1.000 0.160 X 43958515 missense variant T/C snv 0.800 1.000 20 1992 2010
dbSNP: rs104894871
rs104894871
1 1.000 0.160 X 43949914 missense variant C/T snv 0.800 1.000 20 1992 2010
dbSNP: rs104894872
rs104894872
1 1.000 0.160 X 43949995 missense variant C/G snv 0.800 1.000 20 1992 2010
dbSNP: rs104894875
rs104894875
1 1.000 0.160 X 43949888 missense variant C/A;T snv 0.800 1.000 20 1992 2010
dbSNP: rs104894877
rs104894877
1 1.000 0.160 X 43949913 missense variant G/C snv 0.800 1.000 20 1992 2010
dbSNP: rs104894879
rs104894879
1 1.000 0.160 X 43958608 missense variant A/C snv 0.800 1.000 20 1992 2010
dbSNP: rs104894880
rs104894880
1 1.000 0.160 X 43950020 missense variant G/A snv 0.800 1.000 20 1992 2010
dbSNP: rs104894883
rs104894883
1 1.000 0.160 X 43949899 missense variant G/A snv 0.800 1.000 20 1992 2010
dbSNP: rs104894876
rs104894876
2 0.925 0.160 X 43949873 missense variant A/C snv 0.700 1.000 20 1992 2010
dbSNP: rs104894878
rs104894878
2 0.925 0.160 X 43949840 missense variant G/A snv 0.700 1.000 20 1992 2010
dbSNP: rs1057520333
rs1057520333
1 1.000 0.160 X 43949934 missense variant G/C snv 0.700 1.000 20 1992 2010
dbSNP: rs1460859456
rs1460859456
2 0.925 0.160 X 43950001 missense variant C/A;T snv 0.700 1.000 20 1992 2010
dbSNP: rs758550101
rs758550101
2 0.925 0.160 X 43958534 missense variant G/A;T snv 5.5E-06; 5.5E-06 0.700 1.000 20 1992 2010
dbSNP: rs104894873
rs104894873
1 1.000 0.160 X 43949817 stop gained G/A;T snv 3.1E-05 0.700 0
dbSNP: rs104894882
rs104894882
1 1.000 0.160 X 43949983 stop gained G/T snv 0.700 0
dbSNP: rs1057518793
rs1057518793
1 1.000 0.160 X 43949933 missense variant G/A snv 0.700 0
dbSNP: rs1369490553
rs1369490553
1 1.000 0.160 X 43950007 missense variant C/T snv 0.700 0
dbSNP: rs137852221
rs137852221
1 1.000 0.160 X 43958512 missense variant A/T snv 0.700 0
dbSNP: rs28933685
rs28933685
1 1.000 0.160 X 43958645 start lost T/C snv 0.700 0
dbSNP: rs727504031
rs727504031
3 0.925 0.200 X 43949981 missense variant G/A snv 0.700 0
dbSNP: rs80358284
rs80358284
10 0.790 0.240 11 86952443 missense variant T/A;C snv 4.0E-06; 2.4E-05 0.700 0
dbSNP: rs878853243
rs878853243
4 0.851 0.160 7 120806619 missense variant C/A snv 0.700 0