DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Gene: MAPK1 ×

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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
rs1057519911	MAPK1	0.776	0.160	22	21772875	missense variant	C/T	snv			10
rs8136867	MAPK1	0.882	0.080	22	21850504	intron variant	G/A	snv		0.55	4
rs866604606	MAPK1	0.882	0.120	22	21772907	missense variant	G/A	snv			4
rs5999749	MAPK1	0.925	0.080	22	21833371	intron variant	A/C;T	snv			3
rs1390282714	MAPK1	0.925	0.080	22	21769233	missense variant	C/A;T	snv	4.0E-06; 4.0E-06		2
rs6928	MAPK1	0.925	0.080	22	21760715	3 prime UTR variant	C/G	snv		0.49	2
rs11913721	MAPK1	1.000	0.040	22	21855846	intron variant	A/C	snv		0.34	1
rs13515	MAPK1	1.000	0.040	22	21761597	3 prime UTR variant	C/T	snv		0.16	1
rs17759796	MAPK1			22	21835874	intron variant	C/A	snv		0.11	1
rs2266966	MAPK1	1.000	0.120	22	21767265	intron variant	T/C;G	snv			1
rs2283792	MAPK1	1.000	0.080	22	21776836	intron variant	T/G	snv		0.54	1
rs5999521	MAPK1	1.000	0.120	22	21792110	intron variant	A/G	snv		0.54	1
rs9340	MAPK1	1.000	0.040	22	21761064	3 prime UTR variant	G/A	snv		0.38	1