DisGeNET - a database of gene-disease associations

List of associated variants

Childhood Leukemia, C1332977

Source: ALL

Results per page

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
rs17655	BIVM-ERCC5 ; ERCC5	0.597	0.560	13	102875652	missense variant	G/C	snv	0.28	0.30	52
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	104
rs4925	GSTO1	0.677	0.560	10	104263031	missense variant	C/A	snv	0.25	0.23	28
rs121434592	AKT1	0.595	0.640	14	104780214	missense variant	C/T	snv	4.0E-06		54
rs227060	C11orf65 ; ATM	0.882	0.160	11	108334154	intron variant	C/T	snv		0.27	3
rs227092	ATM ; C11orf65	1.000	0.040	11	108366056	3 prime UTR variant	G/A;C;T	snv			1
rs3184504	SH2B3 ; ATXN2	0.572	0.600	12	111446804	missense variant	T/A;C;G	snv	0.67		92
rs4938723	MIR34C ; BTG4 ; MIR34B ; LOC728196	0.574	0.680	11	111511840	intron variant	T/C	snv		0.32	60
rs121913237	NRAS	0.611	0.560	1	114716126	missense variant	C/A;G;T	snv	8.0E-06		50
rs1997623	CAV1	0.807	0.160	7	116525306	missense variant	A/C;G	snv	0.86		9
rs3807987	CAV1	0.732	0.280	7	116539780	intron variant	G/A	snv		7.6E-02	17
rs12672038	CAV1	0.925	0.080	7	116547052	intron variant	G/A	snv		7.6E-02	4
rs3757733	CAV1	1.000	0.040	7	116553675	intron variant	T/A	snv		0.26	4
rs7804372	CAV1	0.716	0.320	7	116554174	intron variant	T/A	snv		0.27	19
rs3807992	CAV1	0.925	0.080	7	116557191	intron variant	G/A	snv		0.28	5
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs201820837	ETV6	0.925	0.040	12	11869532	missense variant	G/A;T	snv	2.4E-05; 6.4E-05		2
rs387906666	CBL	0.827	0.080	11	119278182	missense variant	A/C;G	snv			5
rs2853677	TERT	0.724	0.240	5	1287079	3 prime UTR variant	G/A	snv		0.63	19
rs2736098	TERT	0.600	0.600	5	1293971	synonymous variant	C/T	snv	0.29	0.22	48
rs121913461	ABL1	0.851	0.120	9	130862970	missense variant	T/C	snv			5
rs121913459	ABL1	0.672	0.160	9	130872896	missense variant	C/T	snv			25