DisGeNET - a database of gene-disease associations

List of associated variants

Carcinoma of bladder, C0699885

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
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
rs1799750	WTAPP1 ; MMP1	0.592	0.760	11	102799765	intron variant	C/-	delins		0.50	48
rs2276109	MMP12	0.701	0.440	11	102875061	upstream gene variant	T/C	snv		9.2E-02	18
rs17655	BIVM-ERCC5 ; ERCC5	0.597	0.560	13	102875652	missense variant	G/C	snv	0.28	0.30	52
rs3740393	BORCS7-ASMT ; AS3MT	0.776	0.280	10	102876898	intron variant	G/C;T	snv			10
rs11191438	AS3MT ; BORCS7-ASMT	0.882	0.120	10	102878107	intron variant	G/A;C	snv			3
rs11191439	AS3MT ; BORCS7-ASMT	0.851	0.120	10	102878966	missense variant	T/A;C	snv	9.2E-02		6
rs11191454	LOC107984265 ; BORCS7-ASMT ; AS3MT	0.776	0.160	10	102900247	intron variant	A/G	snv		7.9E-02	9
rs10748835	AS3MT ; LOC107984265 ; BORCS7-ASMT	0.827	0.160	10	102900499	non coding transcript exon variant	G/A	snv		0.41	5
rs1046778	AS3MT ; BORCS7-ASMT ; LOC107984265	0.851	0.160	10	102901727	3 prime UTR variant	T/C	snv		0.30	4
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	104
rs1799796	XRCC3 ; KLC1	0.790	0.240	14	103699590	intron variant	T/A;C	snv	0.31		7
rs861531	XRCC3 ; LOC112268131 ; KLC1	0.882	0.120	14	103706470	3 prime UTR variant	C/A	snv		0.32	3
rs861530	LOC112268131 ; XRCC3 ; KLC1	0.732	0.320	14	103707786	3 prime UTR variant	T/C	snv		0.65	13
rs1799794	XRCC3 ; KLC1	0.763	0.320	14	103712930	splice region variant	T/C	snv		0.22	12
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
rs377062126	TXNRD1	0.882	0.120	12	104319543	missense variant	G/A	snv	2.1E-05	3.5E-05	3
rs1322643228	TXNRD1	0.807	0.280	12	104321110	missense variant	C/T	snv		7.1E-06	6
rs2498801	LOC102723342 ; AKT1	0.790	0.120	14	104769221	upstream gene variant	T/C	snv		0.41	7
rs1130233	AKT1	0.742	0.480	14	104773557	synonymous variant	C/T	snv	0.30	0.23	13
rs3730358	AKT1	0.724	0.360	14	104780070	intron variant	G/A;C	snv	0.16; 4.0E-03		14
rs121434592	AKT1	0.595	0.640	14	104780214	missense variant	C/T	snv	4.0E-06		54
rs1130214	AKT1	0.742	0.280	14	104793397	5 prime UTR variant	C/A	snv		0.31	12