DisGeNET - a database of gene-disease associations

List of associated variants

Osteopenia, C0029453

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
rs587782995	PURA	0.708	0.360	5	140114480	missense variant	T/C	snv			42
rs139751598	PYCR1	0.851	0.240	17	81934931	missense variant	C/T	snv	2.4E-05	4.2E-05	13
rs121909149	SH3BP2	0.925	0.160	4	2831573	missense variant	G/A;C	snv			2
rs751093906	SLC20A2	0.882	0.200	8	42472255	stop gained	G/A;C	snv	4.0E-06		8
rs1557043622	SLC35A2	0.695	0.400	X	48909843	missense variant	C/A	snv			46
rs121912438	SOD1	0.605	0.520	21	31667299	missense variant	G/A;C;T	snv	1.2E-05; 8.0E-06		58
rs9525641	TNFSF11	0.925	0.080	13	42573888	intron variant	T/C	snv		0.47	3
rs2228570	VDR	0.521	0.760	12	47879112	start lost	A/C;G;T	snv	0.63		99
rs731236	VDR	0.542	0.760	12	47844974	synonymous variant	A/G	snv	0.33	0.34	81
rs1544410	VDR	0.542	0.760	12	47846052	intron variant	C/A;G;T	snv			78
rs1423415130	XYLT2	0.851	0.120	17	50360241	missense variant	G/A	snv		7.0E-06	6