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: rs1555977461
rs1555977461
BTK
1.000 X 101353914 stop lost A/G snv
CUI: C3152144
Disease: AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs128620186
rs128620186
BTK
1.000 0.120 X 101375283 start lost A/G snv
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.700 0
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: rs1131691354
rs1131691354
BTK
1.000 0.120 X 101386057 splice region variant C/A;T snv
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.700 0
dbSNP: rs864321659
rs864321659
BTK
1.000 0.240 X 101353865 splice region variant C/T snv
CUI: C0472813
Disease: X-linked agammaglobulinemia with growth hormone deficiency
X-linked agammaglobulinemia with growth hormone deficiency 		0.700 0
dbSNP: rs864321661
rs864321661
BTK
1.000 0.120 X 101375140 splice region variant TT/- del
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.700 0
dbSNP: rs1555977598
rs1555977598
BTK
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: rs193922129
rs193922129
BTK
1.000 0.120 X 101360152 splice acceptor variant T/C snv
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.700 0
dbSNP: rs193922131
rs193922131
BTK
1.000 0.120 X 101359348 splice acceptor variant C/T snv
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.700 0
dbSNP: rs193922132
rs193922132
BTK
1.000 0.120 X 101358698 splice acceptor variant T/C snv
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.700 0
dbSNP: rs864321662
rs864321662
BTK
1.000 0.120 X 101370080 splice acceptor variant C/G snv
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.700 0
dbSNP: rs864321663
rs864321663
BTK
1.000 0.120 X 101370081 splice acceptor variant T/C snv
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.700 0
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: 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: 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: 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: rs1555976766
rs1555976766
BTK ; TIMM8A
1.000 X 101349919 frameshift variant C/- del
CUI: C3152144
Disease: AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs1555977592
rs1555977592
BTK
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: rs1555978412
rs1555978412
BTK
1.000 0.120 X 101360121 frameshift variant ATAGTTAC/- delins
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.700 0
dbSNP: rs1555980799
rs1555980799
BTK
1.000 X 101374615 frameshift variant C/- delins
CUI: C3152144
Disease: AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs1569292774
rs1569292774
BTK
1.000 0.120 X 101360617 frameshift variant -/A delins
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.700 0
dbSNP: rs1569292813
rs1569292813
BTK
1.000 0.120 X 101360691 frameshift variant T/- delins
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.700 0
dbSNP: rs1569292818
rs1569292818
BTK
1.000 0.120 X 101360701 frameshift variant AC/- delins
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.700 0