CD3E, CD3e molecule, 916

N. diseases: 73; N. variants: 4
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: rs201543770
rs201543770 		1.000 11 118312171 splice donor variant G/A;T snv 2.0E-05; 4.0E-06
CUI: C3810127
Disease: IMMUNODEFICIENCY 18
IMMUNODEFICIENCY 18 		0.700 1.000 2 1993 2004
dbSNP: rs121918659
rs121918659 		1.000 11 118312690 stop gained G/A snv
CUI: C3810127
Disease: IMMUNODEFICIENCY 18
IMMUNODEFICIENCY 18 		0.700 0
dbSNP: rs483352928
rs483352928 		1.000 11 118313876 splice donor variant T/C snv
CUI: C3810127
Disease: IMMUNODEFICIENCY 18
IMMUNODEFICIENCY 18 		0.700 0
dbSNP: rs483352929
rs483352929 		1.000 11 118312642 frameshift variant CC/- del
CUI: C3810128
Disease: IMMUNODEFICIENCY 18, SEVERE COMBINED IMMUNODEFICIENCY VARIANT
IMMUNODEFICIENCY 18, SEVERE COMBINED IMMUNODEFICIENCY VARIANT 		0.700 0