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
rs9536314	KL	0.925	0.160	13	33054001	missense variant	T/A;G	snv	0.14		3
rs751093906	SLC20A2	0.882	0.200	8	42472255	stop gained	G/A;C	snv	4.0E-06		8
rs9525641	TNFSF11	0.925	0.080	13	42573888	intron variant	T/C	snv		0.47	3
rs61753219	PEX6	0.672	0.400	6	42978330	missense variant	G/A	snv	3.6E-05	2.8E-05	64
rs1010184002	PEX6	0.689	0.400	6	42978878	stop gained	C/T	snv		7.0E-06	60
rs5742905	CBS	0.701	0.360	21	43063074	missense variant	A/G	snv			22
rs876657421	CBS	0.763	0.240	21	43063074	coding sequence variant	-/CCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG;CCCAGCAAAAGCCCCACCTGGGTGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG	delins			11
rs527624522	EXT2	0.925	0.080	11	44107723	missense variant	C/T	snv	6.4E-05	2.1E-05	5
rs429358	APOE	0.590	0.600	19	44908684	missense variant	T/C	snv	0.14	0.16	66
rs7412	APOE	0.641	0.640	19	44908822	missense variant	C/T	snv	6.2E-02	7.9E-02	47
rs1883832	CD40	0.581	0.680	20	46118343	5 prime UTR variant	T/C	snv	0.75	0.80	52
rs1555222973	CREB3L1	0.851	0.160	11	46312636	inframe deletion	AAG/-	delins			6
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
rs2228570	VDR	0.521	0.760	12	47879112	start lost	A/C;G;T	snv	0.63		99
rs1557043622	SLC35A2	0.695	0.400	X	48909843	missense variant	C/A	snv			46
rs72656307	COL1A1	0.925	0.240	17	50187968	missense variant	G/A	snv	2.4E-05	2.1E-05	2
rs66527965	COL1A1	0.763	0.240	17	50193038	missense variant	C/A;T	snv			31
rs72648365	COL1A1	0.925	0.240	17	50193990	missense variant	G/A;C	snv			2
rs1473998316	COL1A1	1.000	0.080	17	50195926	synonymous variant	A/G	snv			1
rs72645347	COL1A1	0.790	0.280	17	50196337	missense variant	G/A	snv			10
rs1057518930	COL1A1	1.000	0.080	17	50197009	splice donor variant	C/G	snv			3
rs1423415130	XYLT2	0.851	0.120	17	50360241	missense variant	G/A	snv		7.0E-06	6
rs700518	CYP19A1 ; MIR4713HG	0.732	0.320	15	51236915	synonymous variant	T/C	snv	0.43	0.40	13
rs749292	CYP19A1 ; MIR4713HG	0.851	0.160	15	51266534	intron variant	G/A	snv		0.44	4