DisGeNET - a database of gene-disease associations

List of associated variants

Childhood Leukemia, C1332977

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
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs6869366	XRCC4 ; TMEM167A	0.701	0.280	5	83075927	intron variant	T/G	snv		9.2E-02	18
rs35866072	MMP8	0.716	0.360	11	102713373	missense variant	T/G	snv	6.0E-02	9.8E-02	17
rs1051266	SLC19A1	0.627	0.640	21	45537880	missense variant	T/C;G	snv	0.55; 4.4E-06		41
rs61754966	NBN	0.701	0.280	8	89978293	missense variant	T/C;G	snv	1.2E-03		23
rs974120		0.851	0.200	8	2789080	intron variant	T/C;G	snv			4
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs662	PON1	0.485	0.840	7	95308134	missense variant	T/C	snv	0.38	0.42	157
rs2234693	ESR1	0.555	0.680	6	151842200	intron variant	T/C	snv		0.47	77
rs387907272	MYD88	0.572	0.520	3	38141150	stop lost	T/C	snv	5.2E-05	7.0E-06	73
rs4938723	MIR34C ; BTG4 ; MIR34B ; LOC728196	0.574	0.680	11	111511840	intron variant	T/C	snv		0.32	60
rs564398	CDKN2B-AS1	0.716	0.360	9	22029548	3 prime UTR variant	T/C	snv	0.31	0.28	18
rs3798577	ESR1	0.742	0.320	6	152099995	3 prime UTR variant	T/C	snv		0.45	16
rs1801280	NAT2	0.716	0.440	8	18400344	missense variant	T/C	snv	0.38	0.39	14
rs3116496	CD28	0.776	0.160	2	203729789	intron variant	T/C	snv	0.15	0.14	11
rs778036161	RUNX1T1	0.776	0.080	8	92017363	missense variant	T/C	snv	8.0E-06		9
rs748843032	MTTP	0.807	0.160	4	99594840	missense variant	T/C	snv	4.0E-06		8
rs121913461	ABL1	0.851	0.120	9	130862970	missense variant	T/C	snv			5
rs780634396	BCL2	0.882	0.120	18	63318618	missense variant	T/C	snv	4.0E-06		5
rs1188975135	APOBEC3C ; APOBEC3F	0.882	0.040	22	39017772	missense variant	T/C	snv	4.0E-06		4
rs1360698171	RNASEL	0.851	0.080	1	182584103	missense variant	T/C	snv			4
rs10405859	PPP1R37 ; MARK4	0.882	0.080	19	45099523	intron variant	T/C	snv		0.48	3
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs121913514	KIT	0.763	0.240	4	54733174	missense variant	T/A;G	snv			12
rs3184504	SH2B3 ; ATXN2	0.572	0.600	12	111446804	missense variant	T/A;C;G	snv	0.67		92