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: rs128621202
rs128621202
BTK
0.925 0.240 X 101356059 missense variant C/T snv
CUI: C0472813
Disease: X-linked agammaglobulinemia with growth hormone deficiency
X-linked agammaglobulinemia with growth hormone deficiency 		0.700 1.000 7 1994 2009
dbSNP: rs128621192
rs128621192
BTK
1.000 0.120 X 101360589 stop gained C/T snv
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.700 1.000 5 1994 2016
dbSNP: rs128621204
rs128621204
BTK
0.882 0.240 X 101353936 missense variant G/A snv
CUI: C0472813
Disease: X-linked agammaglobulinemia with growth hormone deficiency
X-linked agammaglobulinemia with growth hormone deficiency 		0.700 1.000 5 1994 2010
dbSNP: rs1569291644
rs1569291644
BTK
1.000 0.240 X 101356092 missense variant A/G snv
CUI: C0472813
Disease: X-linked agammaglobulinemia with growth hormone deficiency
X-linked agammaglobulinemia with growth hormone deficiency 		0.700 1.000 5 1995 2002
dbSNP: rs1569292810
rs1569292810
BTK
1.000 0.120 X 101360689 frameshift variant C/- delins
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.700 1.000 5 2000 2011
dbSNP: rs128620185
rs128620185
BTK
0.882 0.240 X 101375202 missense variant C/T snv
CUI: C0472813
Disease: X-linked agammaglobulinemia with growth hormone deficiency
X-linked agammaglobulinemia with growth hormone deficiency 		0.700 1.000 4 1996 2010
dbSNP: rs1555980875
rs1555980875
BTK
0.925 0.240 X 101375166 missense variant T/C snv
CUI: C0472813
Disease: X-linked agammaglobulinemia with growth hormone deficiency
X-linked agammaglobulinemia with growth hormone deficiency 		0.700 1.000 4 1996 2017
dbSNP: rs1569296295
rs1569296295
BTK
1.000 0.120 X 101374536 splice region variant C/T snv
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.700 1.000 4 1998 2005
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: rs128621207
rs128621207
BTK
1.000 0.120 X 101353329 stop gained G/T snv
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.700 1.000 3 1994 2000
dbSNP: rs1555977592
rs1555977592
BTK
0.925 0.240 X 101354677 frameshift variant AACA/- delins
CUI: C0472813
Disease: X-linked agammaglobulinemia with growth hormone deficiency
X-linked agammaglobulinemia with growth hormone deficiency 		0.700 1.000 3 2010 2016
dbSNP: rs1555980049
rs1555980049
BTK
0.925 0.120 X 101370018 stop gained C/T snv
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.700 1.000 3 1996 2016
dbSNP: rs886041148
rs886041148
BTK
0.925 0.240 X 101374560 frameshift variant -/T delins
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.700 1.000 3 1995 2003
dbSNP: rs886041148
rs886041148
BTK
0.925 0.240 X 101374560 frameshift variant -/T delins
CUI: C0472813
Disease: X-linked agammaglobulinemia with growth hormone deficiency
X-linked agammaglobulinemia with growth hormone deficiency 		0.700 1.000 3 1995 2003
dbSNP: rs1057519825
rs1057519825
BTK
0.882 0.120 X 101356176 missense variant C/G snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 1 2014 2014
dbSNP: rs1057519826
rs1057519826
BTK
0.882 0.120 X 101356177 missense variant A/T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 1 2014 2014
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
dbSNP: rs1555977474
rs1555977474
BTK
0.925 0.240 X 101353932 stop gained C/A;T snv
CUI: C0472813
Disease: X-linked agammaglobulinemia with growth hormone deficiency
X-linked agammaglobulinemia with growth hormone deficiency 		0.700 1.000 1 1998 1998
dbSNP: rs1569292021
rs1569292021
BTK
1.000 0.120 X 101357548 stop gained G/A snv
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.700 1.000 1 2005 2005
dbSNP: rs193922128
rs193922128
BTK
0.925 0.240 X 101362606 frameshift variant TCTG/- delins
CUI: C0472813
Disease: X-linked agammaglobulinemia with growth hormone deficiency
X-linked agammaglobulinemia with growth hormone deficiency 		0.700 1.000 1 2001 2001
dbSNP: rs864321665
rs864321665
BTK
0.925 0.240 X 101362203 frameshift variant -/T delins
CUI: C0472813
Disease: X-linked agammaglobulinemia with growth hormone deficiency
X-linked agammaglobulinemia with growth hormone deficiency 		0.700 1.000 1 1997 1997
dbSNP: rs104894770
rs104894770
BTK
1.000 0.120 X 101353935 missense variant C/G snv
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.800 1.000 0 1994 2000
dbSNP: rs128620183
rs128620183
BTK
0.925 0.120 X 101354687 missense variant C/T snv
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.800 1.000 0 1994 2000
dbSNP: rs128620184
rs128620184
BTK
1.000 0.120 X 101356845 missense variant T/C snv
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.800 1.000 0 1994 2000
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 0 1994 2000