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
rs699	AGT	0.501	0.800	1	230710048	missense variant	A/G	snv	0.55	0.58	134
rs3753584	MTHFR ; CLCN6	0.827	0.080	1	11804529	5 prime UTR variant	T/C	snv		0.14	10
rs17367504	MTHFR	1.000	0.040	1	11802721	intron variant	A/G	snv		0.14	9
rs880315	CASZ1	0.925	0.120	1	10736809	intron variant	T/C	snv		0.32	9
rs17030613	CAPZA1			1	112648185	intron variant	A/C	snv		0.19	7
rs17035646	CASZ1			1	10736490	intron variant	G/A;T	snv			6
rs3790604	WNT2B			1	112504257	intron variant	C/A	snv		7.8E-02	5
rs4660293	PABPC4			1	39562508	non coding transcript exon variant	A/C;G	snv			5
rs10776752	WNT2B			1	112501706	intron variant	G/T	snv		8.8E-02	4
rs12129649	MOV10			1	112688881	5 prime UTR variant	G/T	snv		6.6E-02	4
rs2999159	MOV10			1	112688136	intron variant	A/G	snv		0.85	4
rs34071855	CASZ1			1	10738432	intron variant	C/G;T	snv			4
rs12118370	ST7L			1	112605645	intron variant	A/G	snv		0.24	3
rs1330225				1	106293321	intergenic variant	T/C	snv		0.38	3
rs149764880	CLCN6			1	11820674	non coding transcript exon variant	G/T	snv		0.14	3
rs17037452	CLCN6			1	11835618	intron variant	A/G	snv		0.18	3
rs2990220	GBAP1			1	155220463	intron variant	T/A;C;G	snv			3
rs35479618	MIR8083 ; NPR1			1	153689947	missense variant	G/A	snv	9.5E-03	1.1E-02	3
rs16849553	LINC02815 ; LINC02814			1	229201099	intron variant	T/C	snv		3.7E-02	2
rs17669622	ESRRG			1	216583479	intron variant	G/A	snv		0.18	2
rs2076460				1	27645547	upstream gene variant	G/C;T	snv			2
rs6658555	ST7L			1	112555912	missense variant	C/T	snv	0.19	0.20	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
rs3924703	ADGRL2			1	81478514	intron variant	A/G	snv		3.7E-02	1