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: rs104894163
rs104894163
GATA3
1 1.000 0.240 10 8064037 missense variant T/A snv 0.800 1.000 3 2000 2015
dbSNP: rs104894164
rs104894164
GATA3
1 1.000 0.240 10 8073787 stop gained C/T snv 0.710 1.000 1 2020 2020
dbSNP: rs104894162
rs104894162
GATA3
1 1.000 0.240 10 8064043 stop gained C/T snv 0.700 0
dbSNP: rs104894165
rs104894165
GATA3
2 0.925 0.240 10 8073747 missense variant A/G;T snv 4.0E-06 0.700 0
dbSNP: rs1564405163
rs1564405163
GATA3
6 0.807 0.280 10 8073746 missense variant G/C snv 0.700 0
dbSNP: rs387906551
rs387906551
GATA3
1 1.000 0.240 10 8064140 splice donor variant T/GCTTACTTCCC delins 0.700 0
dbSNP: rs387906621
rs387906621
GATA3
1 1.000 0.240 10 8069573 missense variant G/A snv 0.700 0
dbSNP: rs878853222
rs878853222
GATA3 ; LOC107984204
1 1.000 0.240 10 8058727 frameshift variant -/ACCACCCCATCAGCACTCACCCGCCCTACGTGCCC delins 0.700 0
dbSNP: rs751874713
rs751874713
GATA3
1 1.000 0.240 10 8069510 missense variant G/C snv 4.0E-06 0.010 < 0.001 1 2011 2011