DisGeNET - a database of gene-disease associations

Source: GWASCAT

Variants associated to the Disease: Hemoglobin measurement ×

Variants associated to the Gene: TMPRSS6 ×

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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
rs855791	TMPRSS6	0.701	0.400	22	37066896	missense variant	A/G;T	snv	0.57; 4.0E-06		17
rs2413450	TMPRSS6			22	37074184	intron variant	T/C	snv		0.61	5
rs4820268	TMPRSS6	0.851	0.160	22	37073551	missense variant	G/A;C	snv	0.53; 4.0E-06		5
rs228918	TMPRSS6			22	37110640	upstream gene variant	T/C	snv		0.40	1
rs5756504	TMPRSS6			22	37071230	intron variant	C/G;T	snv			1
rs5756519	TMPRSS6			22	37112384	upstream gene variant	G/C	snv		0.41	1
rs5756520	TMPRSS6			22	37112467	upstream gene variant	G/A	snv		0.41	1