rs11055041

Organism: Homo sapiens

Alleles: T>A

Gene : Feature

APOLD1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0238 (7109/29858,GnomAD)
A=0227 (6629/29118,TOPMED)
A=0207 (1035/5008,1000G)
A=0306 (1179/3854,ALSPAC)
A=0312 (1158/3708,TWINSUK)

Position: chr12:12750648 (GRCh38.p7) (12p13.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 42 Enhancers around

Promoter: 40 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 12	NC_000012.12:g.12750648T>A
GRCh37.p13 chr 12	NC_000012.11:g.12903582T>A

Molecule type	Change	Amino acid[Codon]	SO Term
APOLD1 transcript variant 1	NM_001130415.1:c.	N/A	Intron Variant
APOLD1 transcript variant 2	NM_030817.2:c.	N/A	Genic Upstream Transcript Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	T=0.844	A=0.156
1000Genomes	American	Sub	694	T=0.650	A=0.350
1000Genomes	East Asian	Sub	1008	T=0.932	A=0.068
1000Genomes	Europe	Sub	1006	T=0.700	A=0.300
1000Genomes	Global	Study-wide	5008	T=0.793	A=0.207
1000Genomes	South Asian	Sub	978	T=0.780	A=0.220
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.694	A=0.306
The Genome Aggregation Database	African	Sub	8708	T=0.836	A=0.164
The Genome Aggregation Database	American	Sub	826	T=0.620	A=0.380
The Genome Aggregation Database	East Asian	Sub	1618	T=0.950	A=0.050
The Genome Aggregation Database	Europe	Sub	18404	T=0.717	A=0.283
The Genome Aggregation Database	Global	Study-wide	29858	T=0.761	A=0.238
The Genome Aggregation Database	Other	Sub	302	T=0.740	A=0.260
Trans-Omics for Precision Medicine	Global	Study-wide	29118	T=0.772	A=0.227
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.688	A=0.312

PMID	Title	Author	Journal
21314694	Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.	Kendler KS	Alcohol Clin Exp Res

SNP ID	p-value	Traits	Study
rs11055041	0.000441	alcohol dependence	21314694

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
There is no eQTL annotation for this SNP

Probe ID	Position	Gene	beta	p-value
There is no meQTL annotation for this SNP

There is no significant Hi-C chromatin interaction data for this SNP.

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr12	12944618	12945685	E067	41036
chr12	12901811	12902070	E068	-1512
chr12	12911452	12912318	E068	7870
chr12	12942469	12942591	E068	38887
chr12	12944618	12945685	E068	41036
chr12	12945778	12945894	E068	42196
chr12	12866324	12866493	E069	-37089
chr12	12866599	12866738	E069	-36844
chr12	12889498	12890895	E069	-12687
chr12	12911452	12912318	E069	7870
chr12	12944618	12945685	E069	41036
chr12	12881823	12881941	E070	-21641
chr12	12882007	12882067	E070	-21515
chr12	12889498	12890895	E070	-12687
chr12	12944618	12945685	E070	41036
chr12	12945778	12945894	E070	42196
chr12	12866599	12866738	E071	-36844
chr12	12889498	12890895	E071	-12687
chr12	12901811	12902070	E071	-1512
chr12	12911452	12912318	E071	7870
chr12	12866599	12866738	E072	-36844
chr12	12886812	12888651	E072	-14931
chr12	12889498	12890895	E072	-12687
chr12	12911452	12912318	E072	7870
chr12	12944618	12945685	E072	41036
chr12	12911452	12912318	E073	7870
chr12	12944618	12945685	E073	41036
chr12	12857533	12858005	E074	-45577
chr12	12866599	12866738	E074	-36844
chr12	12886812	12888651	E074	-14931
chr12	12889498	12890895	E074	-12687
chr12	12901811	12902070	E074	-1512
chr12	12902105	12902211	E074	-1371
chr12	12944618	12945685	E074	41036
chr12	12889498	12890895	E081	-12687
chr12	12944618	12945685	E081	41036
chr12	12866599	12866738	E082	-36844
chr12	12900122	12900880	E082	-2702
chr12	12900902	12901086	E082	-2496
chr12	12901140	12901209	E082	-2373
chr12	12944618	12945685	E082	41036
chr12	12945778	12945894	E082	42196

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr12	12866740	12872876	E067	-30706
chr12	12873501	12880176	E067	-23406
chr12	12902272	12902832	E067	-750
chr12	12902889	12903018	E067	-564
chr12	12866740	12872876	E068	-30706
chr12	12873501	12880176	E068	-23406
chr12	12902272	12902832	E068	-750
chr12	12902889	12903018	E068	-564
chr12	12866740	12872876	E069	-30706
chr12	12873501	12880176	E069	-23406
chr12	12902272	12902832	E069	-750
chr12	12866740	12872876	E070	-30706
chr12	12872987	12873324	E070	-30258
chr12	12873350	12873434	E070	-30148
chr12	12873501	12880176	E070	-23406
chr12	12866740	12872876	E071	-30706
chr12	12873501	12880176	E071	-23406
chr12	12902272	12902832	E071	-750
chr12	12902889	12903018	E071	-564
chr12	12866740	12872876	E072	-30706
chr12	12873501	12880176	E072	-23406
chr12	12902272	12902832	E072	-750
chr12	12902889	12903018	E072	-564
chr12	12866740	12872876	E073	-30706
chr12	12872987	12873324	E073	-30258
chr12	12873350	12873434	E073	-30148
chr12	12873501	12880176	E073	-23406
chr12	12902272	12902832	E073	-750
chr12	12902889	12903018	E073	-564
chr12	12866740	12872876	E074	-30706
chr12	12873501	12880176	E074	-23406
chr12	12902272	12902832	E074	-750
chr12	12902889	12903018	E074	-564
chr12	12872987	12873324	E081	-30258
chr12	12873350	12873434	E081	-30148
chr12	12873501	12880176	E081	-23406
chr12	12866740	12872876	E082	-30706
chr12	12872987	12873324	E082	-30258
chr12	12873350	12873434	E082	-30148
chr12	12873501	12880176	E082	-23406