DisGeNET - a database of gene-disease associations

List of associated variants

Malignant Neoplasms, C0006826

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
rs104894228	LRRC56 ; HRAS	0.605	0.560	11	534286	missense variant	C/A;G;T	snv			48
rs104894229	LRRC56 ; HRAS	0.564	0.600	11	534289	missense variant	C/A;G;T	snv			73
rs104894230	HRAS ; LRRC56	0.564	0.600	11	534288	missense variant	C/A;G;T	snv			73
rs1048943	CYP1A1	0.533	0.720	15	74720644	missense variant	T/A;C;G	snv	0.11	5.9E-02	88
rs104894309	TIMM8B ; SDHD	0.851	0.200	11	112086940	stop gained	C/A;T	snv	4.0E-06		7
rs104894365	KRAS	0.827	0.320	12	25245345	missense variant	C/T	snv			9
rs1048945	APEX1 ; OSGEP	0.851	0.120	14	20456008	missense variant	G/C	snv	2.1E-02	2.4E-02	6
rs1049074086	CTSD	0.925	0.120	11	1759567	missense variant	A/G	snv		7.0E-06	9
rs10490913	LINC00867			10	118394924	intron variant	T/C	snv		0.39	1
rs1049216	CASP3	0.790	0.200	4	184628935	3 prime UTR variant	A/G	snv		0.27	9
rs1049334	CAV1	0.851	0.280	7	116560326	3 prime UTR variant	G/A;T	snv			6
rs1050171	EGFR ; EGFR-AS1	0.851	0.120	7	55181370	missense variant	G/A;C	snv	0.52; 4.0E-06		6
rs1050450	GPX1	0.623	0.600	3	49357401	missense variant	G/A	snv	0.28	0.30	43
rs10505346	COLEC10 ; TNFRSF11B	0.925	0.080	8	118951604	intron variant	G/T	snv		0.22	4
rs10505476	PCAT1 ; POU5F1B ; CASC8			8	127395871	intron variant	C/T	snv		0.38	3
rs10505477	CASC8 ; PCAT1 ; POU5F1B	0.658	0.400	8	127395198	intron variant	A/G	snv		0.40	31
rs10510776				3	55162885	downstream gene variant	C/A	snv		0.44	1
rs1051266	SLC19A1	0.627	0.640	21	45537880	missense variant	T/C;G	snv	0.55; 4.4E-06		41
rs1051730	CHRNA3	0.641	0.600	15	78601997	synonymous variant	G/A	snv	0.27	0.26	43
rs1051740	EPHX1	0.592	0.760	1	225831932	missense variant	T/C	snv	0.32	0.27	56
rs10519097	RORA	0.708	0.320	15	60997989	intron variant	C/T	snv		0.13	18
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
rs1052576	CASP9	0.807	0.200	1	15506048	missense variant	T/A;C	snv	0.53		9
rs1052823	TNFAIP2	1.000	0.040	14	103137233	3 prime UTR variant	G/A;C;T	snv		0.15	3
rs1052912	TNFAIP2	1.000	0.040	14	103137316	3 prime UTR variant	G/A	snv		0.13	3