DisGeNET - a database of gene-disease associations

List of associated variants

Mild cognitive disorder, C1270972

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
rs1859788	PILRA	0.925	0.080	7	100374211	missense variant	A/C;G	snv	4.0E-06; 0.65		3
rs1416580204	MOK	0.608	0.720	14	102250837	missense variant	C/T	snv	4.0E-06	7.0E-06	49
rs7840202	UBR5	0.851	0.160	8	102296172	intron variant	A/C	snv		0.21	4
rs972936	IGF1 ; LINC02456	0.807	0.200	12	102431143	intron variant	T/C	snv		0.70	12
rs363050	SNAP25-AS1 ; SNAP25	0.790	0.240	20	10253609	intron variant	G/A	snv		0.57	8
rs4684677	GHRLOS ; GHRL	0.742	0.360	3	10286769	missense variant	T/A	snv	0.10	6.6E-02	13
rs8702	KLC1	0.851	0.160	14	103686015	3 prime UTR variant	C/G	snv		0.61	5
rs528528	RELN	0.925	0.080	7	103748638	intron variant	T/A;C	snv			2
rs3764650	ABCA7	0.790	0.200	19	1046521	intron variant	T/G	snv		0.14	9
rs2230806	ABCA1	0.689	0.280	9	104858586	missense variant	C/T	snv	0.32	0.39	24
rs4978818	PALM2AKAP2 ; PTPN3	0.925	0.120	9	109509949	intron variant	G/A;C;T	snv			2
rs7483	GSTM3 ; GSTM5	0.742	0.320	1	109737079	missense variant	C/T	snv	4.0E-06; 0.35	0.26	11
rs774321998	C1orf167 ; MTHFR	1.000	0.040	1	11790683	missense variant	T/C	snv	4.0E-06	7.0E-06	1
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs4837766	CDK5RAP2	0.925	0.080	9	120402006	intron variant	A/C;G;T	snv			2
rs11218304	LOC105369535 ; SORL1	0.925	0.080	11	121478402	intron variant	A/G	snv		0.30	2
rs985421	SORL1	0.925	0.080	11	121491607	intron variant	G/A	snv		3.0E-02	2
rs641120	SORL1	0.882	0.080	11	121510256	intron variant	G/A	snv		0.38	3
rs2298813	SORL1	0.790	0.120	11	121522975	missense variant	G/A;T	snv	7.2E-02; 4.0E-06		7
rs2070045	SORL1	0.851	0.080	11	121577381	synonymous variant	T/G	snv	0.32	0.23	4
rs1010159	SORL1	0.882	0.080	11	121612692	non coding transcript exon variant	C/T	snv	0.55	0.55	3
rs1784933	SORL1	0.882	0.080	11	121618707	intron variant	G/A	snv		0.84	3
rs8052688	UBE2I	1.000	0.040	16	1322182	intron variant	G/A;C	snv			1
rs8063	UBE2I	1.000	0.040	16	1324817	3 prime UTR variant	A/C;G	snv	4.0E-06; 4.0E-06; 0.71		1