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: rs1057519075
rs1057519075
1.000 X 65739816 stop gained C/T snv
CUI: C4310812
Disease: IMMUNODEFICIENCY 50
IMMUNODEFICIENCY 50
0.700 0