DisGeNET - a database of gene-disease associations

List of associated variants

Sarcoma, C1261473

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
rs61764370	KRAS	0.662	0.320	12	25207290	3 prime UTR variant	A/C	snv		6.2E-02	29
rs121913238	KRAS	0.732	0.240	12	25227343	missense variant	G/C;T	snv			17
rs267606985	PTHLH	1.000		12	27963693	missense variant	A/G	snv			3
rs17655	BIVM-ERCC5 ; ERCC5	0.597	0.560	13	102875652	missense variant	G/C	snv	0.28	0.30	52
rs886040738	BRCA2	0.851		13	32363188	frameshift variant	G/-	delins			7
rs80359030	BRCA2	0.851		13	32363189	stop gained	G/A;T	snv	4.0E-06		6
rs1238684646	DICER1			14	95090640	missense variant	C/G	snv	4.0E-06		2
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs11540652	TP53	0.592	0.640	17	7674220	missense variant	C/A;G;T	snv	1.2E-05		57
rs762846821	TP53	0.614	0.320	17	7675151	missense variant	C/A;T	snv	8.0E-06		57
rs1057519975	TP53	0.649	0.480	17	7675209	missense variant	A/C;G;T	snv			34
rs1057519747	TP53	0.716	0.280	17	7675094	missense variant	A/C;G;T	snv			23
rs121912665	TP53	1.000	0.120	17	7674965	missense variant	G/A	snv	2.4E-05	7.0E-06	7
rs121913495	GNAS	0.672	0.400	20	58909366	missense variant	G/A;T	snv			28
rs1555927374	CHEK2			22	28725346	stop gained	C/T	snv			1