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: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.810 1.000 0 1994 2000
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: 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: 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: 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: 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
dbSNP: rs128621208
rs128621208
BTK
1.000 0.120 X 101353282 missense variant G/T snv
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.800 1.000 0 1994 2000
dbSNP: rs128621209
rs128621209
BTK
1.000 0.120 X 101353264 missense variant C/T snv
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.800 1.000 0 1994 2000
dbSNP: rs128622212
rs128622212
BTK ; TIMM8A
1.000 0.120 X 101349910 missense variant A/G snv
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.800 1.000 0 1994 2000
dbSNP: rs28935478
rs28935478
BTK
1.000 0.120 X 101358330 missense variant T/C snv
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.800 1.000 0 1994 2000
dbSNP: rs41310709
rs41310709
BTK
1.000 0.120 X 101356112 stop gained G/A;T 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: 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