DisGeNET - a database of gene-disease associations

List of associated variants

Autoimmune Diseases, C0004364

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
rs878859113	CD24	0.763	0.360	6	106971734	missense variant	G/A	snv		0.35	11
rs56817615	CLNK	0.882		4	10717222	intergenic variant	A/G	snv		0.42	4
rs2108225		1.000	0.040	7	107812658	downstream gene variant	G/A;T	snv			2
rs10494079	VAV3	0.882		1	107832253	intron variant	G/C	snv		9.0E-02	4
rs374039502	TNFSF13B	0.925	0.160	13	108308037	3 prime UTR variant	T/A	snv		2.0E-02	4
rs28583049	LOC105374033	0.882		3	108724568	downstream gene variant	T/C	snv		0.17	4
rs3087456	CIITA ; LOC105371080	0.742	0.480	16	10877045	intron variant	G/A	snv		0.53	14
rs6498142	CLEC16A			16	10987392	intron variant	C/G	snv		0.77	3
rs11043097	LINC02752			11	11114248	intron variant	T/C	snv		0.15	2
rs114378220	CAMK4	0.851	0.040	5	111230662	intron variant	C/T	snv		4.5E-02	5
rs1252641479	ARHGEF7	1.000	0.040	13	111300800	missense variant	T/G	snv	4.0E-06		2
rs7310615	SH2B3	0.882		12	111427245	intron variant	C/G	snv		0.67	12
rs3184504	SH2B3 ; ATXN2	0.572	0.600	12	111446804	missense variant	T/A;C;G	snv	0.67		92
rs653178	ATXN2	0.672	0.600	12	111569952	intron variant	C/T	snv		0.67	41
rs33980500	TRAF3IP2-AS1 ; TRAF3IP2	0.742	0.200	6	111592059	missense variant	C/T	snv	8.6E-02	9.7E-02	14
rs191252491	ALDH2	0.882		12	111773070	intron variant	A/T	snv		7.1E-03	4
rs17561	IL1A	0.672	0.560	2	112779646	missense variant	C/A	snv	0.27	0.26	23
rs1800587	IL1A	0.620	0.720	2	112785383	upstream gene variant	G/A;C	snv		0.32	43
rs3811047	IL37	0.807	0.400	2	112913833	missense variant	A/G	snv	0.71	0.60	10
rs12928822	LOC105371082 ; RMI2	0.882	0.200	16	11310036	intron variant	C/T	snv		0.13	5
rs8061370	LOC105371082 ; RMI2	0.882		16	11364614	intron variant	A/C;T	snv			4
rs6679677	PHTF1	0.653	0.320	1	113761186	upstream gene variant	C/A	snv		6.7E-02	26
rs3789604	RSBN1 ; AP4B1-AS1	0.776	0.360	1	113812320	synonymous variant	T/A;C;G	snv	8.5E-06; 1.3E-05; 0.17		9
rs1310182	AP4B1-AS1 ; PTPN22	0.882	0.360	1	113830881	intron variant	A/C;G	snv		0.56	4
rs2476601	AP4B1-AS1 ; PTPN22	0.498	0.800	1	113834946	missense variant	A/G	snv	0.93	0.93	121