DisGeNET - a database of gene-disease associations

Source: ALL

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

Variants associated to the Gene: PRKCE ×

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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
rs10495928	PRKCE			2	46126027	intron variant	A/G	snv		0.36	5
rs13008603	PRKCE			2	46128709	intron variant	C/A	snv		0.10	5
rs4953318	PRKCE			2	46127912	intron variant	A/C	snv		0.43	5
rs10168349	PRKCE			2	46133768	intron variant	G/C	snv		0.36	4
rs114948639	PRKCE			2	46066687	intron variant	C/T	snv		7.2E-03	3
rs10184620	PRKCE			2	46131396	intron variant	A/G	snv		0.12	2
rs12992366	PRKCE			2	46138781	intron variant	G/A	snv		5.3E-02	2
rs4952800	PRKCE			2	46120467	intron variant	G/A	snv		0.26	2
rs12623399	PRKCE			2	46122132	intron variant	T/C;G	snv			1
rs1987070	PRKCE			2	46010307	intron variant	C/A	snv	0.22	0.22	1
rs665783	PRKCE			2	45654158	intron variant	G/A	snv		0.27	1
rs6753292	PRKCE			2	45775021	intron variant	T/C	snv		0.71	1
rs71422190	PRKCE			2	46088377	intron variant	C/G	snv		5.5E-02	1
rs72808780	PRKCE			2	46181868	intron variant	A/G	snv		0.14	1