DisGeNET - a database of gene-disease associations

List of associated variants

Malignant neoplasm of mouth, C0153381

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
rs1416580204	MOK	0.608	0.720	14	102250837	missense variant	C/T	snv	4.0E-06	7.0E-06	49
rs28362491	LOC105377621 ; NFKB1	0.592	0.720	4	102500998	non coding transcript exon variant	ATTG/-	delins			56
rs72696119	LOC105377621 ; NFKB1	0.925	0.120	4	102501347	5 prime UTR variant	C/G	snv		0.43	3
rs35866072	MMP8	0.716	0.360	11	102713373	missense variant	T/G	snv	6.0E-02	9.8E-02	17
rs34009635	MMP8	0.716	0.360	11	102713445	missense variant	A/G	snv	2.5E-03	6.2E-04	17
rs28903081	KLC1 ; XRCC3	0.851	0.200	14	103698934	missense variant	C/A;T	snv	4.5E-06; 4.3E-04		5
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	104
rs511044	CASP5	0.925	0.120	11	105024783	upstream gene variant	T/C	snv			3
rs221636	LIN28B	1.000	0.120	6	105082089	3 prime UTR variant	T/A	snv		0.82	2
rs189037	ATM ; NPAT	0.689	0.400	11	108223106	5 prime UTR variant	G/A	snv		0.49	22
rs2070894	CRYAB	0.851	0.160	11	111910113	3 prime UTR variant	G/A	snv		0.27	5
rs2228387	CRYAB ; HSPB2-C11orf52 ; HSPB2	0.851	0.160	11	111911560	synonymous variant	C/G;T	snv	1.5E-02		5
rs14133	HSPB2-C11orf52 ; CRYAB ; HSPB2	0.807	0.200	11	111911973	5 prime UTR variant	G/C	snv		0.27	7
rs7085532	TCF7L2	1.000	0.080	10	113099704	intron variant	G/A	snv		0.72	2
rs2227310	CASP7	0.807	0.160	10	113729393	missense variant	C/G	snv	0.26	0.23	9
rs3807987	CAV1	0.732	0.280	7	116539780	intron variant	G/A	snv		7.6E-02	17
rs7804372	CAV1	0.716	0.320	7	116554174	intron variant	T/A	snv		0.27	19
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1801131	MTHFR	0.535	0.840	1	11794419	missense variant	T/G	snv	0.29	0.26	93
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs8898	CTSB	0.925	0.120	8	11845033	3 prime UTR variant	T/C	snv		0.37	5
rs13332	CTSB	0.925	0.120	8	11849072	synonymous variant	T/C;G	snv	3.5E-02; 0.56		6
rs12338	CTSB	0.807	0.200	8	11853379	missense variant	G/A;C;T	snv	8.0E-06; 0.38; 2.4E-05		10
rs9879992	GSK3B	0.882	0.120	3	119993874	intron variant	A/G	snv		0.28	4