DisGeNET - a database of gene-disease associations

List of shared variants

Creutzfeldt-Jakob disease, C0022336

Disease: Prion Diseases

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
rs74315401	PRNP	0.683	0.320	20	4699525	missense variant	C/T	snv			32
rs28933385	PRNP	0.695	0.320	20	4699818	missense variant	G/A	snv	4.0E-06		25
rs1799990	PRNP	0.683	0.440	20	4699605	missense variant	A/G	snv	0.31	0.33	23
rs74315408	PRNP	0.752	0.280	20	4699758	missense variant	G/A	snv	6.4E-05	4.2E-05	16
rs74315407	PRNP	0.732	0.240	20	4699848	missense variant	G/A	snv	8.0E-06	2.1E-05	15
rs74315409	PRNP	0.742	0.240	20	4699915	missense variant	T/G	snv	6.0E-05	2.1E-05	13
rs1800014	PRNP	0.776	0.200	20	4699875	missense variant	G/A	snv	8.0E-03	2.2E-03	11
rs767181086	LAMC2	0.827	0.240	1	183220922	stop gained	G/A;T	snv	8.0E-06; 4.0E-06		11
rs74315403	PRNP	0.790	0.200	20	4699752	missense variant	G/A	snv			10
rs11538758	PRNP	0.882	0.160	20	4699534	missense variant	C/A;T	snv			8
rs74315413	PRNP	0.807	0.160	20	4699780	missense variant	A/G	snv			8
rs74315402	PRNP	0.882	0.200	20	4699570	missense variant	C/T	snv			7
rs74315405	PRNP	0.827	0.160	20	4699813	missense variant	T/C	snv			6
rs16990018	PRNP	0.882	0.120	20	4699732	missense variant	A/G	snv	3.8E-03	1.6E-02	5
rs372805579	CARD14	0.851	0.200	17	80195302	missense variant	G/A	snv	2.4E-05	2.8E-05	5
rs74315412	PRNP	0.851	0.120	20	4699843	missense variant	G/A	snv	6.0E-05	3.5E-05	5
rs1178466848	PRNP	0.925	0.120	20	4699785	missense variant	G/A	snv		2.8E-05	4
rs193922906	PRNP	0.882	0.160	20	4699380	inframe insertion	TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC/-;TCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC	delins			4
rs398122370	PRNP	0.925	0.160	20	4699851	missense variant	G/C	snv			4
rs1473972013	CYP4X1	0.925	0.160	1	47035911	missense variant	G/A	snv		7.0E-06	3
rs368821179	CARD14	0.925	0.160	17	80182758	missense variant	T/C	snv	8.0E-06	2.1E-05	3
rs6107516	PRNP	1.000	0.120	20	4696446	intron variant	G/A	snv		0.23	2
rs776593792	PRNP	1.000	0.120	20	4699827	missense variant	G/A	snv	1.6E-05	2.8E-05	2