DisGeNET - a database of gene-disease associations

List of associated variants

Bone Diseases, C0005940

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
rs758272654	GNAS	0.611	0.680	20	58909201	synonymous variant	T/C	snv	4.0E-06	7.0E-06	50
rs76763715	GBA	0.658	0.520	1	155235843	missense variant	T/C;G	snv	2.3E-03		35
rs1982073	TGFB1	0.649	0.640	19	41353016	missense variant	G/A;C	snv			32
rs421016	GBA	0.683	0.440	1	155235252	missense variant	A/C;G	snv	8.0E-06; 1.3E-03		30
rs1289324472	GBA	0.716	0.400	1	155236354	missense variant	T/C	snv		1.4E-05	21
rs1044498	ENPP1	0.752	0.360	6	131851228	missense variant	A/C;G	snv	0.19		15
rs104893941	MRNIP ; SQSTM1	0.776	0.200	5	179836445	missense variant	C/T	snv	9.8E-04	1.3E-03	9
rs567349821	ALPL	0.925	0.120	1	21575812	missense variant	C/G;T	snv	2.0E-05; 1.6E-05		3
rs397514672	COL1A1	1.000	0.120	17	50185866	missense variant	G/A	snv			2
rs72656351	COL1A1	1.000	0.120	17	50185576	missense variant	C/A;T	snv		2.8E-05	2