DisGeNET - a database of gene-disease associations

List of shared variants

Alopecia, C0002170

Disease: Alopecia Areata

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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs2476601	AP4B1-AS1 ; PTPN22	0.498	0.800	1	113834946	missense variant	A/G	snv	0.93	0.93	121
rs187238	IL18	0.602	0.680	11	112164265	intron variant	C/A;G	snv			48
rs1946518	IL18	0.602	0.760	11	112164735	intron variant	T/G	snv		0.60	46
rs755622	MIF-AS1 ; MIF	0.611	0.720	22	23894205	intron variant	G/C	snv		0.26	44
rs1800520	AIRE	0.851	0.200	21	44290023	missense variant	C/A;G;T	snv	0.14; 8.3E-06		5
rs111238176	FASLG	0.851	0.160	1	172665840	missense variant	A/G	snv			4
rs6457452	HSPA1B	0.851	0.200	6	31827773	5 prime UTR variant	C/G;T	snv	8.5E-05; 9.3E-02; 1.4E-05		4