DisGeNET - a database of gene-disease associations

Source: BEFREE

Variants associated to the Disease: Primary malignant neoplasm ×

Variants associated to the Gene: CD44 ×

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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
rs187115	CD44	0.695	0.320	11	35154612	intron variant	T/C	snv		0.37	22
rs13347	CD44	0.763	0.320	11	35231725	3 prime UTR variant	C/A;T	snv			12
rs751144688	CD44	1.000	0.080	11	35206195	missense variant	C/T	snv	4.0E-06		4
rs8193	CD44	0.925	0.080	11	35229771	3 prime UTR variant	C/T	snv		0.29	4
rs10836347	CD44	1.000	0.080	11	35231586	3 prime UTR variant	C/T	snv		0.11	3
rs713330	CD44	1.000	0.040	11	35202398	intron variant	C/T	snv		0.74	3
rs11821102	CD44			11	35230997	3 prime UTR variant	G/A	snv		6.8E-02	2