DisGeNET - a database of gene-disease associations

List of associated variants

Liddle Syndrome, C0221043

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
rs137852704	SCNN1B	0.882	0.160	16	23380574	stop gained	C/G;T	snv	4.0E-06		6
rs149868979	SCNN1B	1.000	0.120	16	23380566	missense variant	G/A	snv	1.5E-04	1.5E-04	2
rs137852705	SCNN1B	1.000	0.120	16	23380731	missense variant	C/G;T	snv			1
rs137852707	SCNN1B	1.000	0.120	16	23380736	missense variant	T/C	snv			1
rs137852708	SCNN1B	1.000	0.120	16	23380727	missense variant	C/T	snv			1
rs387906402	SCNN1B	1.000	0.120	16	23380725	missense variant	C/G;T	snv			1