CD8A, CD8a molecule, 925

N. diseases: 87; 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: rs121918660
rs121918660
1.000 0.080 2 86790400 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C1837065
Disease: CD8 Deficiency, Familial
CD8 Deficiency, Familial
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.800 1.000 1 2001 2001
dbSNP: rs111976570
rs111976570
2 86786989 intron variant A/C snv 0.12
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
dbSNP: rs3810831
rs3810831
1.000 0.080 2 86791424 5 prime UTR variant A/G snv 0.20
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2013 2013