DisGeNET - a database of gene-disease associations

List of associated variants

POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE, C3887964

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
rs770519542	GANAB	0.925		11	62630788	missense variant	C/A;T	snv	4.0E-06		2
rs879255642	GANAB	0.925		11	62631032	missense variant	G/C	snv			2
rs879255643	GANAB	0.925		11	62626633	missense variant	G/A	snv			2
rs1616940	PKD1	0.925	0.120	16	2114843	missense variant	A/G;T	snv			2
rs199476100	PKD1	0.925	0.120	16	2114489	missense variant	A/G	snv	4.3E-06		2
rs879255641	GANAB	1.000		11	62629281	frameshift variant	CT/-	del			1
rs1567195868	PKD1	1.000		16	2109473	frameshift variant	-/A	delins			1
rs1567187420	PKD1 ; MIR6511B1	1.000		16	2106903	frameshift variant	C/-	del			1
rs1567190244	PKD1 ; MIR6511B1	1.000		16	2108041	intron variant	C/T	snv			1