DisGeNET - a database of gene-disease associations

List of associated variants

Back Pain, C0004604

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
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs1163944538	TMEM94	0.641	0.560	17	75494905	frameshift variant	-/A	delins	4.0E-06		73
rs1352010373	TMEM94	0.641	0.560	17	75489265	splice acceptor variant	G/C	snv			73
rs6746030	SCN1A-AS1 ; SCN9A	0.763	0.320	2	166242648	missense variant	A/G	snv	0.88	0.88	16
rs1563452941	SLC20A2	0.882	0.120	8	42437137	stop gained	C/A	snv			13
rs998259	GCH1	1.000	0.080	14	54888313	intron variant	C/A;T	snv			3
rs4384683	DCC			18	52852662	intron variant	G/A	snv		0.56	1
rs1453867	DIS3L2			2	232053189	intron variant	C/T	snv		0.56	1
rs7833174	GSDMC			8	129706526	intron variant	T/C;G	snv			1
rs12310519	SOX5			12	23822285	intron variant	C/T	snv		0.17	1