DisGeNET - a database of gene-disease associations

List of shared variants

Neoplastic Syndromes, Hereditary, C0027672

Disease: TUMOR PREDISPOSITION SYNDROME

Source: ALL

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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
rs869025212	BAP1	0.827	0.200	3	52403428	frameshift variant	G/-	delins			6
rs276174859	BRCA2	0.851	0.280	13	32339964	stop gained	TC/AG	mnv			5
rs80359406	BRCA2	0.851	0.200	13	32338209	frameshift variant	AAAA/-;A;AA;AAA;AAAAA	delins		7.0E-06	5
rs587781442	MRE11	0.882	0.200	11	94435846	frameshift variant	-/GAAGTGGTAGGAAAAATGTC	delins		7.0E-05	4
rs587782443	PALB2	0.925	0.080	16	23636320	frameshift variant	T/-	delins	4.1E-06	7.0E-06	3
rs587782570	PALB2	0.925	0.080	16	23623033	frameshift variant	-/T	delins	4.0E-06		3
rs587782710	PMS2	1.000		7	5997376	frameshift variant	GGAGTCAC/-	delins			3
rs1060503735	PHF7 ; BAP1	1.000		3	52409716	frameshift variant	A/-	delins			2
rs1060503750	BAP1	1.000		3	52408473	splice donor variant	C/A;T	snv			2
rs1553644815	BAP1	1.000		3	52403449	frameshift variant	-/A	delins			2
rs1553645164	BAP1	1.000		3	52404550	stop gained	G/A	snv			2
rs397509413	PHF7 ; BAP1	1.000		3	52409597	frameshift variant	CC/-;CCC	delins			2
rs774730309	BAP1	1.000		3	52406251	splice donor variant	A/G	snv	8.0E-06	7.0E-06	2
rs776240891	BAP1	1.000		3	52406279	stop gained	G/A;T	snv	1.6E-05		2
rs886058705	BAP1	1.000		3	52404500	frameshift variant	TA/-	delins			2