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: 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: 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: 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: 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: 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: 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: 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: 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: C3152144
Disease: AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs128621210
rs128621210
BTK
1.000 0.120 X 101353213 missense variant A/T snv
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		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: 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: 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: rs1555977580
rs1555977580
BTK
1.000 X 101354627 splice donor variant CACCT/TTTC delins
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: 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: rs1555978024
rs1555978024
BTK
1.000 X 101357570 missense variant C/G snv
CUI: C3152144
Disease: AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs1555978197
rs1555978197
BTK
1.000 X 101358638 missense variant G/A snv
CUI: C3152144
Disease: AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE 		0.700 0