ESR2, estrogen receptor 2, 2100

N. diseases: 528; N. variants: 56
Disease: Specific granule deficiency ×
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: rs758858068
rs758858068 		1.000 0.040 14 64225321 missense variant T/A;C;G snv 3.2E-05; 4.0E-06
CUI: C0398593
Disease: Specific granule deficiency
Specific granule deficiency 		Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018