DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: X-linked agammaglobulinemia ×

Variants associated to the Gene: BTK ×

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	Num. diseases
rs128620185	BTK	0.882	0.240	X	101375202	missense variant	C/T	snv	4
rs1569292214	BTK	1.000	0.120	X	101358408	missense variant	A/T	snv	4
rs128621201	BTK	0.882	0.240	X	101356060	stop gained	G/A;C	snv	3
rs128621204	BTK	0.882	0.240	X	101353936	missense variant	G/A	snv	3
rs1555978277	BTK	0.882	0.240	X	101359324	missense variant	C/T	snv	3
rs128620183	BTK	0.925	0.120	X	101354687	missense variant	C/T	snv	2
rs128621193	BTK	0.925	0.120	X	101360581	stop gained	G/A	snv	2
rs128621194	BTK	0.925	0.240	X	101359325	missense variant	G/A	snv	2
rs128621195	BTK	1.000	0.120	X	101358672	missense variant	T/C	snv	2
rs128621202	BTK	0.925	0.240	X	101356059	missense variant	C/T	snv	2
rs128621203	BTK	0.925	0.240	X	101354636	missense variant	A/G	snv	2
rs1555977474	BTK	0.925	0.240	X	101353932	stop gained	C/A;T	snv	2
rs1555980049	BTK	0.925	0.120	X	101370018	stop gained	C/T	snv	2
rs1555980875	BTK	0.925	0.240	X	101375166	missense variant	T/C	snv	2
rs193922128	BTK	0.925	0.240	X	101362606	frameshift variant	TCTG/-	delins	2
rs864321665	BTK	0.925	0.240	X	101362203	frameshift variant	-/T	delins	2
rs886041148	BTK	0.925	0.240	X	101374560	frameshift variant	-/T	delins	2
rs104894770	BTK	1.000	0.120	X	101353935	missense variant	C/G	snv	1
rs1131691354	BTK	1.000	0.120	X	101386057	splice region variant	C/A;T	snv	1
rs128620184	BTK	1.000	0.120	X	101356845	missense variant	T/C	snv	1
rs128620186	BTK	1.000	0.120	X	101375283	start lost	A/G	snv	1
rs128620187	BTK	1.000	0.120	X	101375248	stop gained	G/A	snv	1
rs128620188	BTK	1.000	0.120	X	101375242	stop gained	G/A	snv	1
rs128620189	BTK	1.000	0.120	X	101375188	missense variant	T/G	snv	1
rs128621190	BTK	1.000	0.120	X	101370051	missense variant	A/T	snv	1