Source: CLINVAR

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: rs1057520045
rs1057520045
BTK
1.000 0.080 X 101375164 missense variant C/T snv
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia 		0.700 1.000 1 1999 1999