DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Red Blood Cell Count measurement ×

Variants associated to the Gene: CHURC1-FNTB ×

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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	AF EXOME	AF GENOME	Num. diseases
rs11627485	FNTB ; CHURC1-FNTB ; MAX			14	65020976	intron variant	T/C	snv		0.36	5
rs7155454	FNTB ; MAX ; CHURC1-FNTB			14	65035521	intron variant	G/A	snv		0.61	4
rs7148590	CHURC1-FNTB ; FNTB ; MAX			14	65006478	intron variant	G/A	snv		0.57	3
rs11627531	CHURC1-FNTB ; FNTB ; MAX			14	65021078	intron variant	T/C	snv		0.57	2
rs8006419	FNTB ; CHURC1-FNTB ; MAX			14	65034017	intron variant	A/G	snv		0.61	2
rs726668	FNTB ; MAX ; CHURC1-FNTB			14	65029098	intron variant	A/G;T	snv			2
rs12435835	MAX ; CHURC1-FNTB ; FNTB			14	65033191	intron variant	T/G	snv		0.57	2
rs4899159	MAX ; FNTB ; CHURC1-FNTB			14	65013877	intron variant	A/G;T	snv			2
rs11628273	MIR4706 ; CHURC1-FNTB ; MAX ; FNTB			14	65043160	intron variant	C/T	snv		0.57	2