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: rs128621201
rs128621201
BTK
0.882 0.240 X 101356060 stop gained G/A;C snv
CUI: C0472813
Disease: X-linked agammaglobulinemia with growth hormone deficiency
X-linked agammaglobulinemia with growth hormone deficiency 		0.700 1.000 3 1994 2003
dbSNP: rs128621201
rs128621201
BTK
0.882 0.240 X 101356060 stop gained G/A;C snv
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.700 0
dbSNP: rs128621201
rs128621201
BTK
0.882 0.240 X 101356060 stop gained G/A;C snv
CUI: C3152144
Disease: AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE 		0.700 0