Source: UNIPROT

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: rs128620185
rs128620185
BTK
0.882 0.240 X 101375202 missense variant C/T snv
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.810 1.000 20 1994 2000