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: 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: 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: 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: 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: rs128620187
rs128620187
BTK
1.000 0.120 X 101375248 stop gained G/A snv
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.700 0
dbSNP: rs128620188
rs128620188
BTK
1.000 0.120 X 101375242 stop gained G/A snv
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.700 0
dbSNP: rs128621191
rs128621191
BTK
1.000 0.120 X 101360626 stop gained C/A snv
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.700 0
dbSNP: rs128621193
rs128621193
BTK
0.925 0.120 X 101360581 stop gained G/A snv
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.700 0
dbSNP: rs128621193
rs128621193
BTK
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: rs128621197
rs128621197
BTK
1.000 0.240 X 101357561 stop gained A/C snv
CUI: C0472813
Disease: X-linked agammaglobulinemia with growth hormone deficiency
X-linked agammaglobulinemia with growth hormone deficiency 		0.700 0
dbSNP: rs128621199
rs128621199
BTK
1.000 0.120 X 101356858 stop gained G/A;T snv 1.1E-05
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.700 0
dbSNP: rs128621201
rs128621201
BTK
0.882 0.240 X 101356060 stop gained G/A;C snv
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.700 0
dbSNP: rs128621201
rs128621201
BTK
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: rs128622211
rs128622211
BTK
1.000 0.120 X 101353196 stop gained C/A snv
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.700 0
dbSNP: rs1555978891
rs1555978891
BTK
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
BTK
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: rs1555980796
rs1555980796
BTK
1.000 0.120 X 101374612 stop gained G/T snv
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.700 0
dbSNP: rs1569295678
rs1569295678
BTK
1.000 0.240 X 101371664 stop gained G/T snv
CUI: C0472813
Disease: X-linked agammaglobulinemia with growth hormone deficiency
X-linked agammaglobulinemia with growth hormone deficiency 		0.700 0
dbSNP: rs193922124
rs193922124
BTK
1.000 0.120 X 101356163 stop gained G/A;T snv 5.5E-06
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.700 0
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: 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