rs128621201, BTK

N. diseases: 3
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 with growth hormone deficiency
CUI: C0472813
Disease: X-linked agammaglobulinemia with growth hormone deficiency
17 0.882 0.240 X 101356060 stop gained G/A;C snv 0.700 1.000 3 1994 2003
AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE
CUI: C3152144
Disease: AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE
18 0.882 0.240 X 101356060 stop gained G/A;C snv 0.700 0
X-linked agammaglobulinemia
CUI: C0221026
Disease: X-linked agammaglobulinemia
69 0.882 0.240 X 101356060 stop gained G/A;C snv 0.700 0