DisGeNET - a database of gene-disease associations

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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
rs17669622	ESRRG			1	216583479	intron variant	G/A	snv		0.18	2
rs2269233	PGM1			1	63653675	intron variant	T/C;G	snv			2
rs2269241	PGM1	1.000	0.120	1	63643100	intron variant	T/C	snv		0.23	2
rs35295665	CASZ1			1	10737371	intron variant	-/C	delins			2
rs4660303				1	39594801	intergenic variant	G/A	snv		0.16	2
rs4846044	C1orf167-AS1 ; C1orf167			1	11779941	missense variant	T/C;G	snv	0.95		2
rs486142				1	234712862	non coding transcript exon variant	G/A	snv		0.65	2
rs648425	PTGFR			1	78421523	intron variant	T/C	snv		0.95	2
rs6676300				1	11865243	regulatory region variant	A/G	snv		0.42	2
rs71647013	RNU5E-1			1	11908142	non coding transcript exon variant	G/A;C;T	snv			2
rs71647019				1	11918198	downstream gene variant	C/A	snv		3.4E-02	2
rs71647020				1	11918477	downstream gene variant	G/A	snv		3.4E-02	2
rs72641011	PLOD1			1	11963443	intron variant	G/A	snv		2.3E-02	2
rs7535162	SDCCAG8			1	243262387	intron variant	T/G	snv		0.28	2
rs9438905	MACO1			1	25437686	intron variant	A/G	snv		0.59	2
rs11208264	PGM1			1	63659401	intron variant	T/C	snv		0.30	1
rs11576729	PGM1			1	63648758	intron variant	G/A;T	snv			1
rs12027168	PGM1			1	63654942	intron variant	T/C	snv		0.22	1
rs1506397	LOC105378771			1	63679612	intergenic variant	C/G	snv		0.21	1
rs2269234	PGM1			1	63653305	intron variant	A/G	snv		0.26	1
rs2269235	PGM1			1	63653244	intron variant	A/G	snv		0.26	1
rs2269238	PGM1			1	63651866	intron variant	G/A;T	snv	3.2E-05; 0.24		1
rs2269240	PGM1			1	63643593	intron variant	T/C	snv		0.21	1
rs2269245	PGM1			1	63642222	intron variant	G/A	snv		0.19	1
rs2269246	PGM1			1	63641820	intron variant	T/C	snv		0.21	1