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: rs137853322
rs137853322
IKBKG
1 1.000 0.080 X 154564420 missense variant A/G snv 0.800 1.000 7 2000 2014
dbSNP: rs179363865
rs179363865
IKBKG
3 0.882 0.080 X 154563613 missense variant G/C snv 0.710 1.000 7 2000 2014
dbSNP: rs137853323
rs137853323
IKBKG
1 1.000 0.080 X 154552186 stop gained C/T snv 0.710 1.000 1 2013 2013
dbSNP: rs1057520292
rs1057520292
IKBKG
1 1.000 0.080 X 154558650 missense variant G/A snv 4.8E-05 0.700 1.000 7 2000 2014
dbSNP: rs1198984417
rs1198984417
IKBKG
1 1.000 0.080 X 154560437 missense variant G/C snv 4.3E-04 0.700 1.000 7 2000 2014
dbSNP: rs148695964
rs148695964
IKBKG
1 1.000 0.080 X 154552171 missense variant G/A snv 1.1E-03 1.6E-03 0.700 1.000 7 2000 2014
dbSNP: rs179363895
rs179363895
IKBKG
1 1.000 0.080 X 154556344 missense variant C/T snv 2.8E-05 0.700 1.000 7 2000 2014
dbSNP: rs137853321
rs137853321
IKBKG
2 0.925 0.200 X 154564460 stop lost A/G snv 0.700 0
dbSNP: rs1569556615
rs1569556615
IKBKG
1 1.000 0.080 X 154564007 frameshift variant -/C delins 0.700 0
dbSNP: rs267608475
rs267608475
MECP2
2 0.925 0.120 X 154031415 stop gained A/G;T snv 0.010 1.000 1 1999 1999