DisGeNET - a database of gene-disease associations

List of associated variants

Myasthenia Gravis, C0026896

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
rs2893321	TNFSF13B	0.882	0.200	13	108290686	intron variant	A/G	snv		0.20	3
rs3087456	CIITA ; LOC105371080	0.742	0.480	16	10877045	intron variant	G/A	snv		0.53	14
rs2476601	AP4B1-AS1 ; PTPN22	0.498	0.800	1	113834946	missense variant	A/G	snv	0.93	0.93	121
rs11575936	IFNGR1	0.851	0.200	6	137219288	missense variant	C/T	snv	1.3E-03	4.1E-04	4
rs7749323		0.925	0.200	6	137909252	intergenic variant	G/A	snv		3.3E-02	2
rs11558538	LOC107985948 ; HNMT	0.695	0.400	2	138002079	missense variant	C/T	snv	1.0E-01	8.4E-02	19
rs17209237	NR3C1	1.000	0.120	5	143277647	downstream gene variant	A/G	snv		0.18	1
rs1422673	TNIP1	0.925	0.160	5	151059427	intron variant	C/G;T	snv			2
rs2233287	TNIP1	0.925	0.160	5	151060536	intron variant	G/A	snv		0.11	2
rs4958881	TNIP1	0.827	0.280	5	151070675	intron variant	T/C	snv		0.21	7
rs3792785	TNIP1	1.000	0.120	5	151072089	intron variant	T/C	snv		0.13	1
rs3792783	TNIP1	0.882	0.280	5	151076171	intron variant	A/G	snv		0.25	3
rs3753381	SLAMF1	1.000	0.120	1	160629620	intron variant	G/A	snv		0.31	1
rs8058694	ABCC6	1.000	0.120	16	16185006	missense variant	G/T	snv	0.42	0.43	1
rs8058696	ABCC6	1.000	0.120	16	16185012	synonymous variant	G/C;T	snv	0.42		1
rs16862847	CHRNA1	1.000	0.120	2	174764872	intron variant	T/C	snv		0.14	1
rs564353179	TTN ; LOC101927055	1.000	0.120	2	178780121	missense variant	C/G	snv	9.6E-05	9.1E-05	1
rs7574865	STAT4	0.574	0.720	2	191099907	intron variant	T/G	snv		0.79	59
rs231770		1.000	0.120	2	203864430	upstream gene variant	C/T	snv		0.42	1
rs733618	CTLA4	0.763	0.440	2	203866221	upstream gene variant	T/C	snv		0.10	12
rs231775	CTLA4	0.504	0.720	2	203867991	missense variant	A/G;T	snv	0.42; 4.0E-06		115
rs3087243	CTLA4	0.623	0.720	2	203874196	downstream gene variant	G/A	snv		0.37	44
rs9963862	RBBP8	1.000	0.120	18	23007948	intron variant	G/A;C	snv			1
rs1126407	LOC107985367 ; LGALS8	0.925	0.200	1	236537507	missense variant	T/A	snv	0.61	0.61	3
rs2737713	LGALS8 ; LOC107985367	1.000	0.120	1	236537507	missense variant	T/A	snv			2