MSN, moesin, 4478

N. diseases: 140; N. variants: 3
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: rs1057519074
rs1057519074 		1.000 X 65731150 missense variant C/T snv
CUI: C4310812
Disease: IMMUNODEFICIENCY 50
IMMUNODEFICIENCY 50 		0.800 1.000 3 2016 2018
dbSNP: rs143755874
rs143755874 		1.000 0.080 X 65639521 intron variant G/A snv 2.1E-02
CUI: C0002170
Disease: Alopecia
Alopecia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1057519075
rs1057519075 		1.000 X 65739816 stop gained C/T snv
CUI: C4310812
Disease: IMMUNODEFICIENCY 50
IMMUNODEFICIENCY 50 		0.700 0