DisGeNET - a database of gene-disease associations

List of associated variants

Malignant neoplasm of pancreas, C0346647

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
rs980303898	LOC101929532 ; GCG	0.851	0.120	2	162147479	missense variant	T/C	snv	8.0E-06	7.0E-06	4
rs2762932	CYP24A1	0.882	0.200	20	54151852	downstream gene variant	T/C	snv		0.17	3
rs10887710		0.925	0.120	10	80270029	downstream gene variant	T/C	snv		0.19	2
rs11644043	BRD7	0.925	0.120	16	50327466	intron variant	T/C	snv		0.24	2
rs12362504	SBF2 ; LOC101928008	0.925	0.120	11	9907995	intron variant	T/C	snv		0.37	2
rs1276300653	CAMK1 ; OGG1	0.925	0.120	3	9757072	missense variant	T/C	snv		7.0E-06	2
rs1339638227	CDKN2A	0.925	0.120	9	21971119	missense variant	T/C	snv	4.3E-06		2
rs1448106115	PMS2	0.925	0.120	7	5989944	missense variant	T/C	snv	4.0E-06		2
rs145574072	OGG1	0.925	0.120	3	9754765	synonymous variant	T/C	snv	4.0E-06		2
rs17458086	SLC2A13	0.925	0.120	12	40034837	intron variant	T/C	snv		1.1E-02	2
rs2074733	SF3A1	0.925	0.120	22	30342598	non coding transcript exon variant	T/C	snv		0.53	2
rs2457571	SLC22A3	0.925	0.120	6	160413796	intron variant	T/C	snv		0.62	2
rs3124761	SLC2A6	0.925	0.120	9	133474633	intron variant	T/C	snv		0.80	2
rs4927850	TFRC	0.925	0.120	3	196024759	intron variant	T/C	snv		0.71	2
rs767964519	NFE2L2	0.925	0.120	2	177231869	missense variant	T/C	snv	4.0E-06		2
rs782095550	MANF	0.925	0.120	3	51386267	missense variant	T/C	snv			2
rs7106914	SBF2	1.000	0.120	11	9956424	intron variant	T/C	snv		0.38	1
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs200349340	HOTAIR	0.925	0.120	12	53962704	non coding transcript exon variant	T/A;G	snv			2
rs1130409	APEX1	0.555	0.720	14	20456995	missense variant	T/A;C;G	snv	4.0E-06; 4.0E-06; 0.42		72
rs2066827	GPR19 ; CDKN1B	0.695	0.320	12	12718165	missense variant	T/A;C;G	snv	1.6E-04; 1.6E-05; 0.26		21
rs1447826		1.000	0.120	3	74669607	intergenic variant	T/A;C;G	snv			1
rs5219	KCNJ11	0.701	0.360	11	17388025	stop gained	T/A;C	snv	0.64		25
rs698	ADH1C ; ADH1B	0.724	0.240	4	99339632	missense variant	T/A;C	snv	0.35		20
rs1799966	BRCA1	0.807	0.280	17	43071077	missense variant	T/A;C	snv	5.2E-05; 0.35		8