DisGeNET - a database of gene-disease associations

Source: UNIPROT

Variants associated to the Gene: BTK ×

Results per page

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	AF EXOME	AF GENOME	Num. diseases
rs128621196	BTK	1.000	0.120	X	101358411	missense variant	T/G	snv			1
rs128621203	BTK	0.925	0.240	X	101354636	missense variant	A/G	snv			1
rs1555977339	BTK	1.000	0.120	X	101353322	missense variant	C/T	snv			1
rs1555977474	BTK	0.925	0.240	X	101353932	stop gained	C/A;T	snv			1
rs1555980875	BTK	0.925	0.240	X	101375166	missense variant	T/C	snv			1
rs128620184	BTK	1.000	0.120	X	101356845	missense variant	T/C	snv			1
rs128621194	BTK	0.925	0.240	X	101359325	missense variant	G/A	snv			1
rs1555978277	BTK	0.882	0.240	X	101359324	missense variant	C/T	snv			1
rs144079566	BTK	1.000	0.120	X	101356881	missense variant	A/G	snv	2.2E-04	2.8E-04	1
rs128621209	BTK	1.000	0.120	X	101353264	missense variant	C/T	snv			1
rs128621190	BTK	1.000	0.120	X	101370051	missense variant	A/T	snv			1
rs128620189	BTK	1.000	0.120	X	101375188	missense variant	T/G	snv			1
rs128621198	BTK	1.000	0.120	X	101356910	missense variant	A/G	snv			1
rs128621202	BTK	0.925	0.240	X	101356059	missense variant	C/T	snv			1
rs41310709	BTK	1.000	0.120	X	101356112	stop gained	G/A;T	snv			1
rs104894770	BTK	1.000	0.120	X	101353935	missense variant	C/G	snv			1
rs128621204	BTK	0.882	0.240	X	101353936	missense variant	G/A	snv			1
rs128621208	BTK	1.000	0.120	X	101353282	missense variant	G/T	snv			1
rs128620183	BTK	0.925	0.120	X	101354687	missense variant	C/T	snv			1
rs128621206	BTK	1.000	0.120	X	101353336	missense variant	T/C	snv			1
rs28935478	BTK	1.000	0.120	X	101358330	missense variant	T/C	snv			1
rs128621195	BTK	1.000	0.120	X	101358672	missense variant	T/C	snv			1
rs128621205	BTK	1.000	0.120	X	101353879	missense variant	A/G	snv			1
rs128621200	BTK	1.000	0.120	X	101356102	missense variant	A/G	snv			1
rs128620185	BTK	0.882	0.240	X	101375202	missense variant	C/T	snv			1