DisGeNET - a database of gene-disease associations

List of associated variants

Osteoporotic Fractures, C0521170

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
rs1643821	ESR1			6	151862416	intron variant	G/A	snv		0.46	2
rs784288	MECOM	1.000	0.080	3	169253443	intron variant	A/G;T	snv			2
rs4342521	SEM1 ; LOC105375411			7	96506693	missense variant	T/G	snv		0.72	2
rs11898505	SPTBN1			2	54457420	intron variant	A/G	snv		0.76	2
rs7570532	C2orf88 ; MSTN			2	190058686	intron variant	A/G	snv		0.34	1
rs1213308971	DMD			X	31348599	missense variant	T/A	snv	5.5E-06		1
rs1427938321	DMD			X	32365095	missense variant	T/A	snv	5.5E-06		1
rs876657777	DMD			X	32644215	missense variant	T/A	snv			1
rs17790156	LRP4			11	46883767	intron variant	A/T	snv		8.9E-02	1
rs898604	LRP4			11	46896432	intron variant	G/A	snv		0.76	1
rs366512	P4HA2 ; PDLIM4			5	132258479	intron variant	C/T	snv		1.8E-02	1
rs3900945	P4HA2 ; PDLIM4			5	132257177	intron variant	T/A;C	snv			1
rs270611	PDLIM4 ; P4HA2			5	132256377	intron variant	C/A;T	snv			1
rs12475342	SPTBN1			2	54655541	intron variant	G/A	snv		0.28	1
rs2941584	SPTBN1			2	54654484	intron variant	T/C	snv		0.64	1