rs128620185, BTK

N. diseases: 4
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 0.882 0.240 X 101375202 missense variant C/T snv 0.810 1.000 21 1994 2000
X-linked agammaglobulinemia with growth hormone deficiency
CUI: C0472813
Disease: X-linked agammaglobulinemia with growth hormone deficiency
17 0.882 0.240 X 101375202 missense variant C/T snv 0.700 1.000 4 1996 2010
AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE
CUI: C3152144
Disease: AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE
18 0.882 0.240 X 101375202 missense variant C/T snv 0.700 0
Immunologic Deficiency Syndromes
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
31 0.882 0.240 X 101375202 missense variant C/T snv 0.010 1.000 1 1997 1997