rs128621195, BTK

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
X-linked agammaglobulinemia
CUI: C0221026
Disease: X-linked agammaglobulinemia
69 1.000 0.120 X 101358672 missense variant T/C snv 0.800 1.000 20 1994 2000
Immunologic Deficiency Syndromes
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
31 1.000 0.120 X 101358672 missense variant T/C snv 0.010 1.000 1 1997 1997