RORC, RAR related orphan receptor C, 6097

N. diseases: 88; N. variants: 6
Disease: IMMUNODEFICIENCY 42 ×
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: rs774357869
rs774357869 		1.000 1 151817238 missense variant G/A snv 4.0E-06
CUI: C4225266
Disease: IMMUNODEFICIENCY 42
IMMUNODEFICIENCY 42 		0.800 1.000 1 2015 2015
dbSNP: rs863225091
rs863225091 		1.000 1 151813569 stop gained G/A snv
CUI: C4225266
Disease: IMMUNODEFICIENCY 42
IMMUNODEFICIENCY 42 		0.700 0
dbSNP: rs863225092
rs863225092 		1.000 1 151811399 stop gained G/A snv
CUI: C4225266
Disease: IMMUNODEFICIENCY 42
IMMUNODEFICIENCY 42 		0.700 0