BTK, Bruton tyrosine kinase, 695

N. diseases: 290; N. variants: 85
Disease: AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs128620183
rs128620183 		0.925 0.120 X 101354687 missense variant C/T snv
CUI: C3152144
Disease: AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs128620185
rs128620185 		0.882 0.240 X 101375202 missense variant C/T snv
CUI: C3152144
Disease: AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs128621193
rs128621193 		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
dbSNP: rs128621201
rs128621201 		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
dbSNP: rs128621204
rs128621204 		0.882 0.240 X 101353936 missense variant G/A snv
CUI: C3152144
Disease: AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs1555976766
rs1555976766 		1.000 X 101349919 frameshift variant C/- del
CUI: C3152144
Disease: AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs1555977461
rs1555977461 		1.000 X 101353914 stop lost A/G snv
CUI: C3152144
Disease: AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs1555977580
rs1555977580 		1.000 X 101354627 splice donor variant CACCT/TTTC delins
CUI: C3152144
Disease: AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs1555977592
rs1555977592 		0.925 0.240 X 101354677 frameshift variant AACA/- delins
CUI: C3152144
Disease: AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs1555977598
rs1555977598 		1.000 X 101354696 splice acceptor variant T/A snv
CUI: C3152144
Disease: AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs1555978024
rs1555978024 		1.000 X 101357570 missense variant C/G snv
CUI: C3152144
Disease: AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs1555978197
rs1555978197 		1.000 X 101358638 missense variant G/A snv
CUI: C3152144
Disease: AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs1555978277
rs1555978277 		0.882 0.240 X 101359324 missense variant C/T snv
CUI: C3152144
Disease: AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs1555978891
rs1555978891 		1.000 X 101362646 stop gained G/T snv
CUI: C3152144
Disease: AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs1555980049
rs1555980049 		0.925 0.120 X 101370018 stop gained C/T snv
CUI: C3152144
Disease: AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs1555980799
rs1555980799 		1.000 X 101374615 frameshift variant C/- delins
CUI: C3152144
Disease: AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs1555980866
rs1555980866 		1.000 X 101375138 splice donor variant TTAC/- delins
CUI: C3152144
Disease: AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE 		0.700 0