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: 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: 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: 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: rs128620183
rs128620183
BTK
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: 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
dbSNP: rs128620185
rs128620185
BTK
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: rs128620189
rs128620189
BTK
1.000 0.120 X 101375188 missense variant T/G snv
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.810 1.000 0 1994 2000
dbSNP: rs128621190
rs128621190
BTK
1.000 0.120 X 101370051 missense variant A/T snv
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.810 1.000 0 1994 2000
dbSNP: rs128621194
rs128621194
BTK
0.925 0.240 X 101359325 missense variant G/A snv
CUI: C0472813
Disease: X-linked agammaglobulinemia with growth hormone deficiency
X-linked agammaglobulinemia with growth hormone deficiency 		0.700 0
dbSNP: rs128621194
rs128621194
BTK
0.925 0.240 X 101359325 missense variant G/A snv
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.800 1.000 0 1994 2000
dbSNP: rs128621195
rs128621195
BTK
1.000 0.120 X 101358672 missense variant T/C snv
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.800 1.000 0 1994 2000
dbSNP: rs128621196
rs128621196
BTK
1.000 0.120 X 101358411 missense variant T/G snv
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.800 1.000 0 1994 2000
dbSNP: rs128621198
rs128621198
BTK
1.000 0.120 X 101356910 missense variant A/G snv
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.800 1.000 0 1994 2000
dbSNP: rs128621200
rs128621200
BTK
1.000 0.120 X 101356102 missense variant A/G snv
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.800 1.000 0 1994 2000
dbSNP: rs128621202
rs128621202
BTK
0.925 0.240 X 101356059 missense variant C/T snv
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.800 1.000 0 1994 2000
dbSNP: rs128621203
rs128621203
BTK
0.925 0.240 X 101354636 missense variant A/G snv
CUI: C0472813
Disease: X-linked agammaglobulinemia with growth hormone deficiency
X-linked agammaglobulinemia with growth hormone deficiency 		0.700 0
dbSNP: rs128621204
rs128621204
BTK
0.882 0.240 X 101353936 missense variant G/A snv
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.800 1.000 0 1994 2000
dbSNP: rs128621204
rs128621204
BTK
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: rs128621205
rs128621205
BTK
1.000 0.120 X 101353879 missense variant A/G snv
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.800 1.000 0 1994 2000
dbSNP: rs128621206
rs128621206
BTK
1.000 0.120 X 101353336 missense variant T/C snv
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.800 1.000 0 1994 2000