DisGeNET - a database of gene-disease associations

Source: BEFREE

Variants associated to the Disease: Squamous cell carcinoma ×

Variants associated to the Gene: DDR2 ×

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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
rs201701502	DDR2	0.851	0.080	1	162775837	missense variant	C/G;T	snv	1.5E-04	2.1E-05	5
rs765660823	DDR2	0.882	0.200	1	162778720	missense variant	A/C	snv	1.9E-04		4
rs144594252	DDR2	0.882	0.080	1	162754625	missense variant	C/G	snv	6.8E-05	5.6E-05	2
rs267598140	DDR2	0.925	0.080	1	162778600	missense variant	T/A;G	snv			2
rs115169993	DDR2	1.000	0.040	1	162772032	missense variant	G/A	snv	7.8E-04	2.9E-03	1