DisGeNET - a database of gene-disease associations

List of shared variants

Down Syndrome, C0013080

Disease: Lupus Erythematosus, Systemic

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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs1805087	MTR	0.496	0.800	1	236885200	missense variant	A/G	snv	0.20	0.21	135
rs1801394	FASTKD3 ; MTRR	0.531	0.840	5	7870860	missense variant	A/G	snv	0.47	0.45	101
rs1801131	MTHFR	0.535	0.840	1	11794419	missense variant	T/G	snv	0.29	0.26	93
rs1353702185	MDM2	0.550	0.720	12	68839311	missense variant	C/G	snv	4.0E-06		79
rs1800797	IL6 ; IL6-AS1 ; STEAP1B	0.605	0.800	7	22726602	non coding transcript exon variant	A/G	snv		0.72	43
rs775144154	SLC19A1	0.627	0.600	21	45531904	missense variant	C/A;T	snv	9.7E-06; 1.4E-05		38
rs1448674651	TYMS ; ENOSF1	0.667	0.560	18	671384	missense variant	G/A;C	snv	4.0E-06		23
rs1359880314	SLC19A1	0.763	0.320	21	45534541	synonymous variant	C/T	snv	1.6E-05	2.8E-05	12
rs2305764	MYO9B	0.776	0.360	19	17203024	non coding transcript exon variant	G/A	snv	0.52	0.50	10
rs1457092	MYO9B	0.790	0.320	19	17193427	intron variant	C/A	snv		0.44	8