DisGeNET - a database of gene-disease associations

List of associated variants

Phosphoglycerate Kinase 1 Deficiency, C1970848

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
rs121912550	IMPDH1	0.827	0.120	7	128398557	missense variant	C/T	snv	4.0E-06		5
rs1042253	IMPDH1	0.851	0.120	7	128398543	synonymous variant	G/A	snv	4.0E-06		4
rs200729507	IMPDH1	0.851	0.120	7	128396990	missense variant	G/A;C;T	snv	7.6E-05; 4.0E-06		4
rs759995866	IMPDH1	0.851	0.120	7	128398478	missense variant	G/A	snv	4.0E-06		4
rs137852534	PGK1	0.851	0.120	X	78123196	missense variant	T/C	snv	1.1E-05		4
rs137852538	PGK1	0.925	0.080	X	78117385	missense variant	A/T	snv			3
rs137852539	PGK1	1.000	0.080	X	78125344	missense variant	A/C	snv			2
rs137852528	PGK1	1.000	0.080	X	78123240	missense variant	G/A	snv			1
rs137852529	PGK1	1.000	0.080	X	78118146	missense variant	G/A;C	snv	1.1E-05		1
rs137852531	PGK1	1.000	0.080	X	78113890	missense variant	T/C	snv			1
rs137852532	PGK1	1.000	0.080	X	78117367	missense variant	G/T	snv			1
rs137852533	PGK1	1.000	0.080	X	78124883	missense variant	T/C	snv			1
rs137852535	PGK1	1.000	0.080	X	78123292	missense variant	A/T	snv			1
rs137852536	PGK1	1.000	0.080	X	78113767	missense variant	T/A	snv			1
rs137852537	PGK1	1.000	0.080	X	78124896	missense variant	G/A	snv			1
rs431905501	PGK1	1.000	0.080	X	78123234	missense variant	GTC/ATG	mnv			1
rs431905502	PGK1	1.000	0.080	X	78118099	inframe deletion	AAG/-	delins			1
rs431905503	PGK1	1.000	0.080	X	78122954	splice region variant	G/A	snv			1