DisGeNET - a database of gene-disease associations

List of associated variants

Generalized vitiligo, C1304470

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
rs2476601	AP4B1-AS1 ; PTPN22	0.498	0.800	1	113834946	missense variant	A/G	snv	0.93	0.93	121
rs2430561	IFNG ; IFNG-AS1	0.590	0.760	12	68158742	intron variant	T/A	snv		0.36	50
rs2670660	NLRP1	0.708	0.400	17	5615686	intron variant	A/G	snv		0.41	15
rs12150220	NLRP1	0.724	0.360	17	5582047	missense variant	A/T	snv	0.37	0.33	14
rs8182352		0.827	0.160	17	5651667	intergenic variant	T/C	snv		0.44	5
rs9468925	HLA-B	0.851	0.040	6	31291060	intron variant	G/A	snv		0.44	5
rs3138557	IFNG ; IFNG-AS1	0.851	0.080	12	68158711	intron variant	CGAG/-	delins			4
rs11966200	SLC44A4 ; CYP21A2	0.851	0.040	6	31869289	intron variant	C/T	snv	2.9E-02	4.5E-02	4
rs6902119	FGFR1OP	0.882	0.160	6	167092303	intron variant	T/C;G	snv			3
rs6502867	NLRP1	0.882	0.120	17	5517008	intron variant	C/T	snv		0.82	3
rs13208776	SMOC2	0.882	0.040	6	168540944	intron variant	G/A;C	snv			3
rs7758128	TSBP1-AS1	0.882	0.040	6	32377506	intron variant	C/A;T	snv		4.2E-02	3
rs12992492		1.000	0.040	2	203836831	intergenic variant	A/G	snv		0.40	2
rs17008723	FOXP1	0.925	0.040	3	71523984	intron variant	T/G	snv		0.15	2
rs10932037	ICOS	1.000	0.040	2	203960623	3 prime UTR variant	C/T	snv		8.2E-02	1
rs1008588	LOC339166	1.000	0.040	17	5808630	intron variant	A/G	snv		0.41	1