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: rs80338758
rs80338758
MED12
12 0.790 0.400 X 71127367 missense variant C/A;T snv 0.860 1.000 6 2007 2011
dbSNP: rs1057519381
rs1057519381
MED12
6 0.851 0.240 X 71124276 missense variant G/A snv 0.700 0
dbSNP: rs1569481124
rs1569481124
MED12
1 1.000 0.160 X 71123155 missense variant C/T snv 0.700 0
dbSNP: rs397515554
rs397515554
MED12
1 1.000 0.160 X 71127359 missense variant G/A snv 0.700 0
dbSNP: rs762905361
rs762905361
MED12
1 1.000 0.160 X 71126057 missense variant G/A snv 5.5E-06 9.6E-06 0.700 0
dbSNP: rs765417606
rs765417606
MED12
3 0.882 0.400 X 71124263 missense variant A/G snv 2.8E-05 8.6E-05 0.700 0
dbSNP: rs80338759
rs80338759
MED12
2 0.925 0.280 X 71127931 missense variant A/G snv 0.700 0
dbSNP: rs863223696
rs863223696
MED12
1 1.000 0.160 X 71132100 missense variant G/A snv 0.700 0
dbSNP: rs879255526
rs879255526
MED12
1 1.000 0.160 X 71127978 missense variant A/G snv 0.700 0
dbSNP: rs879255527
rs879255527
MED12
1 1.000 0.160 X 71137791 frameshift variant -/C delins 0.700 0
dbSNP: rs137852816
rs137852816
CASK
2 0.925 0.160 X 41853204 missense variant C/A snv 0.010 1.000 1 2009 2009
dbSNP: rs137853319
rs137853319
FLNA
2 0.925 0.160 X 154359839 missense variant G/A snv 2.7E-04 2.3E-04 0.010 1.000 1 2007 2007