DisGeNET - a database of gene-disease associations

List of associated variants

Alzheimer's Disease, C0002395

Source: CURATED ×

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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
rs11540652	TP53	0.592	0.640	17	7674220	missense variant	C/A;G;T	snv	1.2E-05		42
rs4420638	APOC1	0.708	0.520	19	44919689	downstream gene variant	A/G	snv		0.18	36
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	34
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	31
rs671	ALDH2	0.529	0.840	12	111803962	missense variant	G/A	snv	1.9E-02	5.8E-03	29
rs429358	APOE	0.590	0.600	19	44908684	missense variant	T/C	snv	0.14	0.16	29
rs1229984	ADH1B	0.570	0.560	4	99318162	missense variant	T/C;G	snv	0.90		27
rs9939609	FTO	0.559	0.720	16	53786615	intron variant	T/A	snv		0.41	25
rs2075650	TOMM40	0.662	0.360	19	44892362	intron variant	A/G	snv	0.13	0.13	25
rs7412	APOE	0.641	0.640	19	44908822	missense variant	C/T	snv	6.2E-02	7.9E-02	23
rs4803750	BCL3	0.807	0.240	19	44744370	upstream gene variant	A/G	snv		7.7E-02	22
rs1333049	CDKN2B-AS1	0.614	0.520	9	22125504	intron variant	G/C	snv		0.41	21
rs61752717	MEFV	0.583	0.840	16	3243407	missense variant	T/A;C	snv	2.8E-04		20
rs1057519991	TP53	0.662	0.440	17	7675076	missense variant	T/A;C;G	snv	4.0E-06		19
rs646776	CELSR2	0.752	0.240	1	109275908	downstream gene variant	C/T	snv		0.74	15
rs6857	NECTIN2	0.790	0.240	19	44888997	3 prime UTR variant	C/T	snv		0.13	15
rs886041116	ADNP	0.776	0.240	20	50892526	stop gained	G/A	snv			11
rs157580	TOMM40	0.882	0.160	19	44892009	intron variant	G/A	snv		0.69	11
rs769449	APOE	0.882	0.120	19	44906745	non coding transcript exon variant	G/A	snv		8.4E-02	10
rs2740488	ABCA1	0.827	0.120	9	104899461	intron variant	A/C	snv		0.29	9
rs2070600	AGER	0.561	0.760	6	32183666	missense variant	C/T	snv	5.3E-02	3.6E-02	9
rs405509	APOE	0.667	0.480	19	44905579	upstream gene variant	T/G	snv		0.58	9
rs1980493	BTNL2 ; TSBP1-AS1	0.776	0.400	6	32395438	intron variant	T/C	snv		0.13	9
rs2516049	HLA-DRB1	0.742	0.400	6	32602623	intergenic variant	T/C	snv		0.27	9
rs2678379	APOB	1.000	0.080	2	21003688	intron variant	A/G	snv		0.76	8