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
rs873601	BIVM-ERCC5 ; ERCC5	0.677	0.360	13	102875987	3 prime UTR variant	G/A	snv		0.59	25
rs3740393	BORCS7-ASMT ; AS3MT	0.776	0.280	10	102876898	intron variant	G/C;T	snv			10
rs696217	GHRL ; GHRLOS	0.662	0.640	3	10289773	missense variant	G/T	snv	8.8E-02	7.1E-02	32
rs3753841	COL11A1	0.827	0.080	1	102914362	missense variant	G/A	snv	0.61	0.49	7
rs2252070	MMP13	0.752	0.320	11	102955810	upstream gene variant	C/T	snv		0.68	13
rs4910118	CAND1.11			11	10308138	upstream gene variant	C/T	snv		3.5E-02	2
rs710100	TNFAIP2	1.000	0.040	14	103135941	missense variant	A/G	snv	0.64	0.59	3
rs8126	TNFAIP2	0.807	0.080	14	103137232	3 prime UTR variant	C/T	snv		0.63	8
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
rs111853599	CENPE			4	103196214	missense variant	A/G	snv	4.0E-06		2
rs745564626	XRCC3 ; KLC1	0.752	0.280	14	103699003	missense variant	C/G;T	snv	4.3E-05		14
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	104
rs149642280	KLC1 ; XRCC3			14	103699501	missense variant	C/T	snv	1.0E-04; 4.0E-06	3.5E-05	2
rs1799794	XRCC3 ; KLC1	0.763	0.320	14	103712930	splice region variant	T/C	snv		0.22	12
rs2487999	STN1			10	103900068	missense variant	T/A;C	snv	4.0E-06; 0.91		2
rs4135113	TDG	0.925	0.080	12	103982915	missense variant	G/A;C;T	snv	4.7E-02		5
rs200182588	SMC2-AS1 ; SMC2	0.827	0.160	9	104094409	5 prime UTR variant	-/GC	ins		7.0E-06	6
rs4925	GSTO1	0.677	0.560	10	104263031	missense variant	C/A	snv	0.25	0.23	28
rs156697	GSTO2	0.672	0.560	10	104279427	missense variant	A/G;T	snv	0.35		25
rs2498794	AKT1			14	104778914	intron variant	A/G	snv		0.54	2
rs121434592	AKT1	0.595	0.640	14	104780214	missense variant	C/T	snv	4.0E-06		54
rs2494752	AKT1	0.790	0.120	14	104797271	upstream gene variant	A/G	snv		0.85	10
rs2230806	ABCA1	0.689	0.280	9	104858586	missense variant	C/T	snv	0.32	0.39	24
rs314276	LIN28B	0.807	0.280	6	104960124	intron variant	A/C	snv		0.65	10