DisGeNET - a database of gene-disease associations

List of associated variants

Osteopenia, C0029453

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
rs2230912	P2RX7 ; LOC105370032	0.752	0.280	12	121184393	missense variant	A/G	snv	0.13	0.12	16
rs2273073	BMP2	0.882	0.120	20	6770235	missense variant	T/C;G	snv	2.4E-02		3
rs235768	BMP2	0.807	0.160	20	6778468	missense variant	A/G;T	snv	0.67		8
rs28360457	P2RX7 ; LOC105370032	0.882	0.200	12	121175426	missense variant	G/A	snv	8.6E-03	1.1E-02	3
rs3087456	CIITA ; LOC105371080	0.742	0.480	16	10877045	intron variant	G/A	snv		0.53	14
rs312009	LRP5	0.925	0.080	11	68309770	upstream gene variant	T/A;C	snv			2
rs312262690	ANTXR2	0.752	0.320	4	79984831	frameshift variant	-/G;GG	delins	1.7E-05		28
rs3736228	LRP5	0.752	0.400	11	68433827	missense variant	C/T	snv	0.13	0.11	13
rs429358	APOE	0.590	0.600	19	44908684	missense variant	T/C	snv	0.14	0.16	66
rs4355801		0.882	0.120	8	118911634	regulatory region variant	A/G;T	snv			5
rs4988321	LRP5	0.851	0.160	11	68406721	missense variant	G/A;C	snv	3.8E-02		4
rs527624522	EXT2	0.925	0.080	11	44107723	missense variant	C/T	snv	6.4E-05	2.1E-05	5
rs5742905	CBS	0.701	0.360	21	43063074	missense variant	A/G	snv			22
rs587782995	PURA	0.708	0.360	5	140114480	missense variant	T/C	snv			42
rs587784177	NSD1	0.790	0.280	5	177283827	missense variant	G/A	snv			20
rs61753219	PEX6	0.672	0.400	6	42978330	missense variant	G/A	snv	3.6E-05	2.8E-05	64
rs61816761	FLG ; FLG-AS1	0.658	0.640	1	152313385	stop gained	G/A;T	snv	9.4E-03; 8.0E-06		43
rs66527965	COL1A1	0.763	0.240	17	50193038	missense variant	C/A;T	snv			31
rs700518	CYP19A1 ; MIR4713HG	0.732	0.320	15	51236915	synonymous variant	T/C	snv	0.43	0.40	13
rs72645347	COL1A1	0.790	0.280	17	50196337	missense variant	G/A	snv			10
rs72648365	COL1A1	0.925	0.240	17	50193990	missense variant	G/A;C	snv			2
rs72656307	COL1A1	0.925	0.240	17	50187968	missense variant	G/A	snv	2.4E-05	2.1E-05	2
rs731236	VDR	0.542	0.760	12	47844974	synonymous variant	A/G	snv	0.33	0.34	81
rs7412	APOE	0.641	0.640	19	44908822	missense variant	C/T	snv	6.2E-02	7.9E-02	47
rs749292	CYP19A1 ; MIR4713HG	0.851	0.160	15	51266534	intron variant	G/A	snv		0.44	4