DisGeNET - a database of gene-disease associations

List of associated variants

Sense of smell impaired, C2364082

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
rs34637584	LRRK2	0.583	0.480	12	40340400	missense variant	G/A	snv	5.3E-04	3.6E-04	78
rs121909636	FGFR1	0.827	0.240	8	38414569	stop gained	G/A	snv			7
rs11931074	SNCA ; LOC105377329	0.851	0.080	4	89718364	intron variant	G/A;C;T	snv			7
rs121909635	FGFR1	0.827	0.240	8	38426158	missense variant	C/T	snv			6
rs267606805	FGFR1	0.851	0.240	8	38414173	missense variant	G/T	snv			5
rs267606806	FGFR1	0.851	0.240	8	38414166	missense variant	G/A;C	snv	1.2E-05		5
rs12877501	COL4A2	0.925	0.160	13	110512039	missense variant	G/A;C	snv	5.0E-04		4
rs894278	SNCA	0.882	0.080	4	89813384	intron variant	T/G	snv		0.15	4
rs515726224	FGFR1	0.925	0.320	8	38417962	missense variant	C/T	snv			3
rs515726225	FGFR1	1.000	0.160	8	38414254	missense variant	G/A	snv			2
rs606231407	LOC105378457 ; FGF8	1.000	0.040	10	101770613	missense variant	C/T	snv	1.6E-05		2
rs2590498	OBP2A	1.000	0.040	9	135548199	intron variant	A/G	snv		0.39	2