DisGeNET - a database of gene-disease associations

List of associated variants

POLYCYSTIC KIDNEY DISEASE 1, C3149841

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
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs1057518897	PKD1	0.925	0.120	16	2103746	missense variant	C/T	snv		7.0E-06	3
rs148812376	PKD1	0.882	0.120	16	2099955	missense variant	G/A	snv	1.7E-04	3.2E-04	3
rs58598099	PKD1	0.882	0.200	16	2116917	missense variant	A/G	snv			3
rs1057516041	PKD1 ; LOC105371049	0.925	0.120	16	2094127	stop gained	C/A;T	snv	9.4E-06		2
rs1286585831	PKD1	1.000	0.120	16	2117844	stop gained	G/A;T	snv		7.0E-06	2
rs140869992	PKD1 ; MIR6511B1	1.000	0.120	16	2108569	missense variant	G/A;T	snv	1.1E-02		2
rs1555458413	PKD1	0.925	0.120	16	2116010	missense variant	G/A	snv			2
rs1616940	PKD1	0.925	0.120	16	2114843	missense variant	A/G;T	snv			2
rs199476095	PKD1 ; MIR1225 ; LOC105371049 ; TSC2	0.925	0.200	16	2089957	stop gained	G/A;C	snv	4.1E-06		2
rs199476100	PKD1	0.925	0.120	16	2114489	missense variant	A/G	snv	4.3E-06		2
rs780009030	PKD1	1.000	0.120	16	2097376	stop gained	C/A;T	snv	4.1E-06	1.4E-05	2
rs1033550407	PKD1	1.000	0.120	16	2111442	missense variant	G/A	snv		2.1E-05	1
rs1057516206	PKD1	1.000	0.120	16	2111624	stop gained	A/T	snv			1
rs1060499699	PKD1	1.000	0.120	16	2117579	missense variant	G/T	snv			1
rs1060499704	PKD1	1.000	0.120	16	2100396	missense variant	C/A	snv			1
rs1114167370	PKD1	1.000	0.120	16	2118296	missense variant	A/C	snv			1
rs114251396	LOC105371049 ; MIR1225 ; PKD1 ; TSC2	1.000	0.120	16	2089813	missense variant	G/A	snv	3.7E-03	3.3E-03	1
rs115538130	PKD1 ; LOC105371049 ; MIR1225	1.000	0.120	16	2090179	missense variant	G/A;T	snv	9.3E-04; 4.2E-06		1
rs1161298621	MIR6511B1 ; PKD1	1.000	0.120	16	2106475	missense variant	G/A	snv		7.0E-06	1
rs1167476946	LOC105371049 ; PKD1	1.000	0.120	16	2092492	missense variant	G/A	snv			1
rs1218054241	MIR1225 ; PKD1 ; LOC105371049	1.000	0.120	16	2090776	stop gained	C/A;T	snv	4.1E-06		1
rs1266492292	PKD1	1.000	0.120	16	2113185	missense variant	C/G	snv	8.4E-06		1
rs1282205691	PKD1	1.000	0.120	16	2118717	missense variant	C/A;T	snv			1
rs1282668884	LOC105371049 ; MIR1225 ; PKD1	1.000	0.120	16	2090191	missense variant	G/A	snv			1