DisGeNET - a database of gene-disease associations

Source: BEFREE

Variants associated to the Disease: Osteosarcoma of bone ×

Variants associated to the Gene: MDM2 ×

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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
rs1353702185	MDM2	0.550	0.720	12	68839311	missense variant	C/G	snv	4.0E-06		79
rs2279744	MDM2	0.605	0.640	12	68808800	intron variant	T/G	snv		0.31	47
rs367597251	MDM2	0.807	0.080	12	68839587	missense variant	A/G	snv	1.5E-04	5.1E-04	10
rs1690916	MDM2	0.882	0.040	12	68841626	3 prime UTR variant	G/A	snv		0.35	4
rs11177386	MDM2	0.882	0.040	12	68820362	missense variant	G/A	snv			3
rs199812774	MDM2	0.882	0.040	12	68839357	synonymous variant	T/C	snv	1.8E-04	2.4E-04	3
rs201821879	MDM2	0.882	0.040	12	68809237	missense variant	C/T	snv	1.6E-04	1.9E-04	3
rs756673959	MDM2	0.882	0.040	12	68828867	stop lost	T/G	snv			3
rs780673045	MDM2	0.882	0.040	12	68839592	missense variant	A/G	snv	1.2E-05		3