Source: ALL

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: 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: 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: 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: 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: rs1555978777
rs1555978777
BTK
1.000 0.120 X 101362171 splice donor variant A/T snv
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		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: rs1569291215
rs1569291215
BTK
1.000 0.120 X 101354629 splice donor variant C/A snv
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.700 0
dbSNP: rs1569292214
rs1569292214
BTK
1.000 0.120 X 101358408 missense variant A/T snv
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.700 0
dbSNP: rs1569292649
rs1569292649
BTK
1.000 0.120 X 101360087 splice donor variant C/T snv
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		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
dbSNP: rs1569293252
rs1569293252
BTK
1.000 0.120 X 101362172 splice donor variant C/A snv
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.700 0
dbSNP: rs1569293253
rs1569293253
BTK
1.000 0.120 X 101362172 frameshift variant -/ATGTAGCT delins
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		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: rs193922125
rs193922125
BTK
1.000 0.120 X 101356107 missense variant T/A snv
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.700 0
dbSNP: rs193922126
rs193922126
BTK
1.000 0.120 X 101353940 frameshift variant AATTTGGA/- delins
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.700 0
dbSNP: rs193922128
rs193922128
BTK
0.925 0.240 X 101362606 frameshift variant TCTG/- delins
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.700 0