DisGeNET - a database of gene-disease associations

List of associated variants

Peripheral Nervous System Diseases, C4721453

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
rs6265	BDNF ; BDNF-AS	0.436	0.760	11	27658369	missense variant	C/T	snv	0.19	0.15	272
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs759834365	BDNF-AS ; BDNF	0.448	0.760	11	27658456	missense variant	C/T	snv	1.2E-05		237
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs387907272	MYD88	0.572	0.520	3	38141150	stop lost	T/C	snv	5.2E-05	7.0E-06	73
rs28933979	TTR	0.587	0.600	18	31592974	missense variant	G/A;C	snv	1.0E-04		70
rs3025039	VEGFA	0.576	0.720	6	43784799	3 prime UTR variant	C/T	snv		0.13	62
rs1050450	GPX1	0.623	0.600	3	49357401	missense variant	G/A	snv	0.28	0.30	43
rs76992529	TTR	0.653	0.560	18	31598655	missense variant	G/A	snv	1.1E-03	4.9E-03	36
rs74315401	PRNP	0.683	0.320	20	4699525	missense variant	C/T	snv			32
rs4553808	CTLA4	0.672	0.320	2	203866282	upstream gene variant	A/G;T	snv		0.16	28
rs1801198	TCN2	0.677	0.400	22	30615623	missense variant	G/A;C	snv	5.6E-05; 0.57		26
rs113994097	POLG	0.724	0.400	15	89323426	missense variant	C/G	snv	9.7E-04	7.9E-04	22
rs119103263	MFN2	0.827	0.240	1	11992659	missense variant	C/T	snv			19
rs6746030	SCN1A-AS1 ; SCN9A	0.763	0.320	2	166242648	missense variant	A/G	snv	0.88	0.88	16
rs3811463	LIN28A	0.752	0.400	1	26427451	3 prime UTR variant	T/A;C	snv			14
rs121918100	TTR	0.827	0.160	18	31595184	missense variant	T/C	snv			11
rs104894619	PMP22	0.827	0.120	17	15231047	missense variant	G/A	snv	4.0E-03	3.7E-03	9
rs11541796	TTR	0.807	0.280	18	31593011	missense variant	A/G	snv			9
rs121918094	TTR	0.827	0.280	18	31592921	missense variant	T/C	snv			8
rs121909112	HSPB1	0.882	0.080	7	76303855	missense variant	C/G	snv			7
rs104894351	HSPB8 ; LOC107984440	0.827	0.080	12	119187078	missense variant	A/C;G	snv			7
rs924607	LOC105374608 ; LOC100996325	0.851	0.120	5	609978	intron variant	C/T	snv		0.32	7
rs397515323	PDK3	0.851	0.080	X	24503479	missense variant	G/A	snv			7