GATA3, GATA binding protein 3, 2625

N. diseases: 429; N. variants: 30
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1564405163
rs1564405163
0.807 0.280 10 8073746 missense variant G/C snv
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism
Endocrine System Diseases 0.700 0
dbSNP: rs104894165
rs104894165
0.925 0.240 10 8073747 missense variant A/G;T snv 4.0E-06
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism
Endocrine System Diseases 0.010 1.000 1 2006 2006