rs1555980049, 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 0.925 0.120 X 101370018 stop gained C/T snv 0.700 1.000 3 1996 2016
AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE
CUI: C3152144
Disease: AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE
18 0.925 0.120 X 101370018 stop gained C/T snv 0.700 0