Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555977474
rs1555977474
BTK
0.925 0.240 X 101353932 stop gained C/A;T snv
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.700 1.000 20 1994 2000
dbSNP: rs1555977474
rs1555977474
BTK
0.925 0.240 X 101353932 stop gained C/A;T snv
CUI: C0472813
Disease: X-linked agammaglobulinemia with growth hormone deficiency
X-linked agammaglobulinemia with growth hormone deficiency 		0.700 1.000 1 1998 1998