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	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs6658555	ST7L	1	112555912	missense variant	C/T	snv	0.19	0.20	2
rs6686889		1	24703979	upstream gene variant	C/A;G;T	snv			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
rs7515635	HIVEP3	1	41942399	intron variant	T/C	snv		0.46	2
rs7535162	SDCCAG8	1	243262387	intron variant	T/G	snv		0.28	2
rs7546498	GNB1	1	1808816	intron variant	G/T	snv		0.39	2
rs953492	SDCCAG8	1	243307890	splice region variant	A/G	snv		0.49	2
rs10916082	CDC42BPA	1	227064925	intron variant	A/G	snv		0.30	1
rs10920250	IPO9-AS1 ; NAV1	1	201755384	intron variant	G/A	snv		0.24	1
rs10926991	SDCCAG8	1	243329265	intron variant	A/G	snv		0.30	1
rs11466111	NGF-AS1 ; NGF	1	115286557	missense variant	C/T	snv	1.0E-02	1.2E-02	1
rs12078697	LINC01762	1	116472496	intron variant	G/C	snv		0.32	1
rs12142296	P3R3URF-PIK3R3 ; PIK3R3	1	46076007	intron variant	T/G	snv		9.7E-02	1
rs1240716		1	1410616	non coding transcript exon variant	G/A;T	snv			1
rs12408022	GPATCH2	1	217545447	intron variant	C/T	snv		0.22	1
rs13796	HAX1	1	154273441	synonymous variant	T/C	snv	0.12	9.5E-02	1
rs137976953	C1orf167	1	11782952	intron variant	T/-	del		1.0E-01	1
rs150816167	TDRD5	1	179602727	intron variant	T/C	snv		3.4E-02	1
rs1565716	MECR	1	29222704	intron variant	G/A	snv		7.2E-02	1
rs17046596	GPATCH2	1	217549107	intron variant	A/C	snv		0.22	1
rs182662555		1	95823780	intergenic variant	T/C	snv		2.5E-04	1
rs1886914		1	118998829	downstream gene variant	C/A;G	snv			1
rs1915872	RGS7	1	241198493	intron variant	G/A	snv		0.20	1
rs2065152	LOC101927952 ; LRRC8C	1	89762960	non coding transcript exon variant	C/T	snv		0.37	1