DisGeNET - a database of gene-disease associations

List of associated variants

Chronic diarrhea, C0401151

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
rs1557781252	GATAD2B	0.742	0.320	1	153816414	stop gained	G/A	snv			33
rs148881970	NAGLU	0.724	0.360	17	42543840	missense variant	A/G	snv	5.4E-05	1.3E-04	22
rs555145190	NAGLU	0.732	0.360	17	42543921	stop gained	G/A;C;T	snv	4.2E-06		21
rs1425998598	BPTF	0.763	0.240	17	67918802	missense variant	G/A;C	snv	1.2E-05		19
rs587777630	STAT1	0.716	0.440	2	190986921	missense variant	G/A	snv			16
rs121908096	CYP27A1	0.827	0.320	2	218814186	missense variant	C/A;T	snv	8.0E-06; 2.9E-04		10
rs886556800	CYP27A1	0.827	0.320	2	218809576	splice acceptor variant	G/T	snv			10
rs1057518903	MEN1	0.882	0.160	11	64807890	splice region variant	C/-	delins			6
rs370244148	WNT2B	0.882	0.160	1	112514896	stop gained	C/A;T	snv	1.6E-05; 1.2E-05		6