DisGeNET - a database of gene-disease associations

List of associated variants

Hereditary Malignant Neoplasm, C1333600

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
rs121912664	TP53	0.630	0.320	17	7670699	missense variant	C/A;G;T	snv	1.2E-05		44
rs28934573	TP53	0.667	0.480	17	7674241	missense variant	G/A;C;T	snv	4.0E-06		28
rs34301344	ARL11	0.689	0.400	13	49630893	stop gained	G/A	snv	9.7E-03	7.9E-03	22
rs3803185	ARL11	0.708	0.320	13	49630889	missense variant	T/C;G	snv	0.39		19
rs755100942	ARL11	0.724	0.320	13	49630894	stop gained	G/A	snv	4.2E-06		17
rs55705857	CCDC26	0.732	0.080	8	129633446	intron variant	A/G	snv		3.9E-02	16
rs180177132	PALB2	0.790	0.280	16	23621362	stop gained	C/T	snv	6.0E-05	2.1E-05	11
rs587779338	PMS2	0.851	0.200	7	5977589	missense variant	G/A	snv	1.0E-05	2.1E-05	7
rs10254120	PMS2	0.851	0.080	7	6005996	missense variant	C/A;G;T	snv	7.2E-02		5
rs587779163	MSH2	0.882	0.160	2	47410220	missense variant	T/G	snv			4
rs876659602	BRCA2	0.882	0.080	13	32337468	missense variant	A/G	snv			3
rs72552387	MSR1	0.882	0.080	8	16168568	missense variant	C/A;G;T	snv	1.6E-03; 4.0E-06		3
rs201671325	PMS2	0.925	0.080	7	5982849	missense variant	C/T	snv	7.6E-04	7.1E-04	2
rs876660734	BRCA1	1.000	0.040	17	43094207	missense variant	A/G;T	snv			1
rs139615282	CD44	1.000	0.040	11	35211387	missense variant	C/G;T	snv	1.2E-05		1
rs587779134	MSH2	1.000	0.040	2	47476429	missense variant	C/G	snv			1
rs1554897271	PTEN	1.000	0.040	10	87925544	stop gained	A/T	snv			1
rs55633281	TOPBP1	1.000	0.040	3	133652627	missense variant	G/A	snv	5.5E-02	6.1E-02	1