DisGeNET - a database of gene-disease associations

List of associated variants

Neuropathy, C0442874

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
rs4986790	TLR4	0.438	0.800	9	117713024	missense variant	A/G;T	snv	6.1E-02; 4.0E-06		223
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs4986791	TLR4	0.456	0.840	9	117713324	missense variant	C/T	snv	5.7E-02	4.9E-02	182
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
rs121912438	SOD1	0.605	0.520	21	31667299	missense variant	G/A;C;T	snv	1.2E-05; 8.0E-06		58
rs1501299	ADIPOQ ; ADIPOQ-AS1	0.597	0.720	3	186853334	intron variant	G/C;T	snv			52
rs121918457	PTPN11	0.701	0.280	12	112488466	missense variant	C/T	snv	4.0E-06	7.0E-06	24
rs14259	PSMD9	0.724	0.360	12	121915890	missense variant	A/C;G	snv	4.0E-06; 0.32		19
rs765798193	PSMD9	0.732	0.320	12	121915884	frameshift variant	G/-;GG	delins			18
rs6746030	SCN1A-AS1 ; SCN9A	0.763	0.320	2	166242648	missense variant	A/G	snv	0.88	0.88	16
rs267607161	TTR	0.742	0.360	18	31598580	missense variant	G/T	snv	4.0E-06	7.0E-06	16
rs1043307	PSMD9	0.776	0.360	12	121915890	missense variant	A/C;G	snv			14
rs3825172	PSMD9	0.776	0.360	12	121902569	non coding transcript exon variant	C/G;T	snv			14
rs74421874	PSMD9	0.776	0.360	12	121902546	non coding transcript exon variant	G/A	snv		0.24	14
rs121918312	BAG3	0.776	0.160	10	119672373	missense variant	C/A;T	snv			11
rs58982919	NEFL	0.790	0.080	8	24956223	missense variant	T/C	snv			10
rs28940291	MFN2	0.776	0.080	1	11992660	missense variant	G/A	snv	4.0E-06		9
rs104894619	PMP22	0.827	0.120	17	15231047	missense variant	G/A	snv	4.0E-03	3.7E-03	9
rs104894621	PMP22	0.790	0.080	17	15239575	missense variant	G/A	snv			9
rs104894077	GDAP1	0.790	0.080	8	74361886	stop gained	C/T	snv	7.6E-05	1.5E-04	8
rs71597855		0.807	0.240	4	53790270	intron variant	G/A	snv		2.5E-02	7
rs730880031	CHCHD10 ; LOC107985577	0.807	0.160	22	23767438	missense variant	C/A;T	snv	1.8E-05; 4.4E-06		7
rs924607	LOC105374608 ; LOC100996325	0.851	0.120	5	609978	intron variant	C/T	snv		0.32	7