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: rs128621193
rs128621193
BTK
0.925 0.120 X 101360581 stop gained G/A snv
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.700 0
dbSNP: rs128621193
rs128621193
BTK
0.925 0.120 X 101360581 stop gained G/A snv
CUI: C3152144
Disease: AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE 		0.700 0