DisGeNET - a database of gene-disease associations

List of associated variants

Hormone measurement, C0441683

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	Num. diseases
rs657152	ABO	0.882	0.200	9	133263862	intron variant	A/C;T	snv		22
rs2235544	DIO1	0.742	0.240	1	53909897	intron variant	C/A;T	snv	0.53; 4.0E-06	14
rs34670419	ZKSCAN5	1.000	0.080	7	99533211	3 prime UTR variant	G/A;T	snv	7.7E-06; 2.6E-02	7
rs10032216	LOC107986195			4	148748354	intron variant	T/A;C	snv		3
rs11624776				14	93129246	regulatory region variant	A/C;T	snv		3
rs7045138	PTCSC2			9	97829181	intron variant	C/G;T	snv		3
rs112295236	SLC22A10			11	63147874	intron variant	C/A;G	snv		2
rs1624802				12	130012927	intergenic variant	A/G;T	snv		2
rs17250196	CASTOR3 ; PVRIG ; STAG3			7	100219573	3 prime UTR variant	G/A;T	snv		2
rs17776563				15	88575873	intergenic variant	G/A;C	snv		2
rs3981351	PLEKHS1			10	113755361	5 prime UTR variant	G/A;T	snv		2
rs753760	PDE10A			6	165632995	intron variant	C/A;G	snv		2
rs883403	PTCD1 ; ATP5MF-PTCD1 ; ATP5MF ; CPSF4			7	99450355	synonymous variant	T/A;C	snv	4.0E-06; 0.26	2
rs9915657	SOX9-AS1			17	72131395	intron variant	T/A;C	snv		2
rs10238965	FAM200A			7	99548222	missense variant	C/A;T	snv	0.26	1
rs11973801	ZKSCAN5			7	99505288	5 prime UTR variant	A/C;G	snv		1
rs13228694	STAG3L5P-PVRIG2P-PILRB ; STAG3L5P			7	100342684	intron variant	C/G;T	snv		1
rs13240600	ATP5MF-PTCD1 ; ATP5MF			7	99466843	upstream gene variant	A/C;G;T	snv		1
rs1581492	TMEM225B			7	99589203	intron variant	G/A;T	snv		1
rs188440	LINC01595			19	47868876	upstream gene variant	C/A;G;T	snv		1
rs2272168	ZKSCAN5			7	99505154	5 prime UTR variant	G/C;T	snv		1
rs2497306				10	92725454	intergenic variant	A/C;T	snv		1
rs2910393	SULT2A1			19	47877871	intron variant	T/A;C	snv		1
rs296365	SULT2A1 ; LINC01595			19	47871294	3 prime UTR variant	C/A;G	snv		1
rs371912317	ZNF655			7	99566328	intron variant	A/TG	delins		1