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
rs1451501407	GUCY2D	1.000	0.040	17	8006628	missense variant	G/A	snv			1
rs267606857	GUCY2D	1.000	0.080	17	8015404	missense variant	T/C	snv			1
rs61750173	GUCY2D	0.827	0.080	17	8014701	missense variant	G/A	snv			1
rs61750172	GUCY2D	0.807	0.080	17	8014700	missense variant	C/A;T	snv	4.0E-06		1
rs28933695	GUCY2D	0.851	0.080	17	8014699	missense variant	G/C	snv			1
rs61750168	GUCY2D	0.851	0.080	17	8013918	missense variant	C/G;T	snv	4.0E-06; 1.5E-04		1
rs565948960	GUCY2D	1.000	0.040	17	8006648	missense variant	C/T	snv	7.4E-05		1
rs61749665	GUCY2D	1.000	0.040	17	8003201	missense variant	G/T	snv	0.42	0.30	1
rs61750176	GUCY2D	1.000	0.040	17	8014760	missense variant	C/A;T	snv			1
rs201414567	GUCY2D	1.000	0.040	17	8003211	missense variant	C/T	snv	1.0E-03	4.7E-04	1
rs61750171	GUCY2D	1.000	0.040	17	8014000	missense variant	G/A;T	snv			1
rs61750162	GUCY2D	1.000	0.040	17	8012472	missense variant	G/A	snv	3.8E-04	3.2E-04	1
rs375010731	GUCY2D	1.000	0.040	17	8013967	missense variant	T/C;G	snv	4.0E-06; 4.0E-06		1
rs61749755	GUCY2D	1.000	0.040	17	8009531	missense variant	T/C	snv	4.0E-06		1
rs61750182	GUCY2D	1.000	0.040	17	8015419	missense variant	T/C	snv	8.0E-06	1.4E-05	1
rs61749756	GUCY2D	1.000	0.040	17	8009554	missense variant	A/C;G	snv	4.0E-06; 2.0E-05		1
rs61749669	GUCY2D	1.000	0.040	17	8003361	missense variant	G/A	snv			1
rs61749673	GUCY2D	1.000	0.040	17	8004065	missense variant	C/G;T	snv	2.0E-05		1
rs61749675	GUCY2D	0.882	0.080	17	8004104	missense variant	T/C	snv			1
rs61749677	GUCY2D	1.000	0.040	17	8006420	missense variant	G/A;T	snv	1.7E-05		1