DisGeNET - a database of gene-disease associations

List of shared variants

melanoma, C0025202

Disease: ovarian neoplasm

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
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
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs755100942	ARL11	0.724	0.320	13	49630894	stop gained	G/A	snv	4.2E-06		17
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	104
rs28362491	LOC105377621 ; NFKB1	0.592	0.720	4	102500998	non coding transcript exon variant	ATTG/-	delins			56
rs555607708	CHEK2	0.667	0.360	22	28695869	frameshift variant	G/-	del	2.0E-03	1.8E-03	33
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214