DisGeNET - a database of gene-disease associations

List of associated variants

Lymphangioleiomyomatosis, C0751674

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
rs7041	GC	0.576	0.800	4	71752617	missense variant	A/C;T	snv	0.52; 4.0E-06		64
rs4588	GC	0.597	0.720	4	71752606	missense variant	G/A;T	snv	1.6E-05; 0.25		53
rs28934872	TSC2	0.851	0.200	16	2070571	missense variant	G/A	snv			5
rs45469298	TSC2	0.851	0.200	16	2070570	missense variant	C/G;T	snv			5
rs45517412	PKD1 ; TSC2	0.882	0.200	16	2088293	missense variant	C/G;T	snv			4
rs118203542	TSC1	0.851	0.200	9	132906053	stop gained	G/A	snv			4
rs118203631	TSC1	0.851	0.200	9	132903785	stop gained	G/A	snv			4
rs45517395	TSC2	0.882	0.200	16	2088117	missense variant	G/A;C	snv	4.0E-06		4
rs118203427	TSC1	0.882	0.200	9	132921418	stop gained	G/A	snv			3
rs1564488264	TSC1	0.882	0.200	9	132911110	frameshift variant	T/-	del			3
rs1131691965	TSC2	0.882	0.200	16	2074394	splice region variant	G/C	snv			3
rs1567387207	TSC2	0.882	0.200	16	2050487	splice donor variant	G/A	snv			3
rs1567437155	TSC2	0.882	0.200	16	2064286	frameshift variant	C/-	del			3
rs45517179	TSC2	0.882	0.200	16	2064341	stop gained	C/G;T	snv			3
rs45517222	TSC2	0.882	0.200	16	2072879	stop gained	C/T	snv			3
rs118203388	TSC1	1.000	0.120	9	132923361	stop gained	G/T	snv			1
rs45517148	TSC2	1.000	0.120	16	2060790	stop gained	G/A;C;T	snv	1.6E-05; 4.0E-06		1