DisGeNET - a database of gene-disease associations

List of associated variants

Neuromyelitis Optica, C0027873

Source: ALL

Results per page

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
rs759834365	BDNF-AS ; BDNF	0.448	0.760	11	27658456	missense variant	C/T	snv	1.2E-05		237
rs763780	IL17F	0.531	0.720	6	52236941	missense variant	T/C	snv	6.7E-02	6.6E-02	87
rs7574865	STAT4	0.574	0.720	2	191099907	intron variant	T/G	snv		0.79	59
rs1883832	CD40	0.581	0.680	20	46118343	5 prime UTR variant	T/C	snv	0.75	0.80	52
rs6897932	IL7R	0.683	0.560	5	35874473	missense variant	C/T	snv	0.23	0.21	25
rs4810485	CD40	0.732	0.480	20	46119308	intron variant	T/A;G	snv			16
rs3808607	CYP7A1	0.716	0.400	8	58500365	upstream gene variant	G/T	snv		0.55	16
rs767455	TNFRSF1A	0.742	0.400	12	6341779	synonymous variant	T/C	snv	0.37	0.40	13
rs548234	ATG5	0.763	0.360	6	106120159	intron variant	C/T	snv		0.76	11
rs117026326	LOC101926943 ; GTF2I	0.752	0.440	7	74711703	intron variant	C/T	snv		1.3E-02	10
rs10181656	STAT4	0.763	0.360	2	191105153	intron variant	G/C	snv		0.79	9
rs1800693	TNFRSF1A	0.776	0.360	12	6330843	non coding transcript exon variant	T/C	snv	0.36; 4.0E-06	0.38	9
rs422951	NOTCH4	0.807	0.280	6	32220606	missense variant	T/C	snv	0.40	0.40	8
rs10168266	STAT4	0.776	0.400	2	191071078	intron variant	C/T	snv		0.19	8
rs3765459	CD40	0.807	0.280	20	46128768	intron variant	G/A;C	snv	0.22		7
rs3761959	FCRL3	0.827	0.320	1	157699488	intron variant	C/A;G;T	snv			7
rs3135388	HLA-DRA	0.807	0.240	6	32445274	downstream gene variant	A/G	snv		0.90	7
rs4149577	TNFRSF1A	0.827	0.280	12	6338356	intron variant	G/A;T	snv			7
rs1234315	TNFSF4	0.807	0.400	1	173209324	upstream gene variant	C/T	snv		0.57	6
rs844648	TNFSF4 ; LOC100506023	0.807	0.280	1	173254724	regulatory region variant	G/A	snv		0.46	6
rs6074022		0.851	0.240	20	46111557	TF binding site variant	C/G;T	snv			5
rs2075575	AQP4-AS1 ; AQP4	0.851	0.200	18	26866562	intron variant	G/A	snv		0.31	5
rs945635	FCRL3	0.882	0.200	1	157700500	5 prime UTR variant	C/A;G	snv	5.6E-05; 0.45		4
rs704840	LOC100506023 ; TNFSF4	0.851	0.240	1	173257056	intergenic variant	T/G	snv		0.29	4