rs919123

Organism: Homo sapiens

Alleles: A>C

Gene : Feature

LOC105374768 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A==0461 (13788/29858,GnomAD)
A==0446 (12989/29116,TOPMED)
C=0480 (2405/5008,1000G)
A==0447 (1724/3854,ALSPAC)
A==0451 (1671/3708,TWINSUK)

Position: chr2:64326306 (GRCh38.p7) (2p14)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 82 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 2	NC_000002.12:g.64326306A>C
GRCh37.p13 chr 2	NC_000002.11:g.64553440A>C

Gene: LOC105374768, uncharacterized LOC105374768(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105374768 transcript	XR_001739495.1:n.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.384	C=0.616
1000Genomes	American	Sub	694	A=0.520	C=0.480
1000Genomes	East Asian	Sub	1008	A=0.783	C=0.217
1000Genomes	Europe	Sub	1006	A=0.480	C=0.520
1000Genomes	Global	Study-wide	5008	A=0.520	C=0.480
1000Genomes	South Asian	Sub	978	A=0.470	C=0.530
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.447	C=0.553
The Genome Aggregation Database	African	Sub	8672	A=0.412	C=0.588
The Genome Aggregation Database	American	Sub	838	A=0.550	C=0.450
The Genome Aggregation Database	East Asian	Sub	1616	A=0.785	C=0.215
The Genome Aggregation Database	Europe	Sub	18432	A=0.451	C=0.548
The Genome Aggregation Database	Global	Study-wide	29858	A=0.461	C=0.538
The Genome Aggregation Database	Other	Sub	300	A=0.550	C=0.450
Trans-Omics for Precision Medicine	Global	Study-wide	29116	A=0.446	C=0.553
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.451	C=0.549

PMID	Title	Author	Journal
20201924	Genome-wide association study of alcohol dependence implicates a region on chromosome 11.	Edenberg HJ	Alcohol Clin Exp Res

P-Value

SNP ID	p-value	Traits	Study
rs919123	0.00039	alcohol dependence(Early Onset)	20201924
rs919123	0.00048	alcohol dependence	20201924

eQTL of rs919123 in Brain tissues (GTEx Analysis Release V7)

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

meQTL of rs919123 in Fetal Brain

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

Genomic View

Chromatin Interaction

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

Enhancer Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr2	64522662	64522714	E067	-30726
chr2	64538149	64540891	E067	-12549
chr2	64554379	64555703	E067	939
chr2	64557532	64558820	E067	4092
chr2	64503545	64504893	E068	-48547
chr2	64511473	64511554	E068	-41886
chr2	64511755	64511828	E068	-41612
chr2	64511915	64512377	E068	-41063
chr2	64512536	64512644	E068	-40796
chr2	64512777	64512828	E068	-40612
chr2	64523649	64523704	E068	-29736
chr2	64523942	64523992	E068	-29448
chr2	64524027	64524082	E068	-29358
chr2	64553136	64553506	E068	0
chr2	64553887	64554032	E068	447
chr2	64556659	64556787	E068	3219
chr2	64557017	64557346	E068	3577
chr2	64557532	64558820	E068	4092
chr2	64503545	64504893	E069	-48547
chr2	64511473	64511554	E069	-41886
chr2	64511755	64511828	E069	-41612
chr2	64511915	64512377	E069	-41063
chr2	64512536	64512644	E069	-40796
chr2	64512777	64512828	E069	-40612
chr2	64554379	64555703	E069	939
chr2	64503545	64504893	E070	-48547
chr2	64511755	64511828	E070	-41612
chr2	64511915	64512377	E070	-41063
chr2	64512536	64512644	E070	-40796
chr2	64512777	64512828	E070	-40612
chr2	64537902	64537942	E070	-15498
chr2	64538149	64540891	E070	-12549
chr2	64554379	64555703	E070	939
chr2	64556659	64556787	E070	3219
chr2	64557017	64557346	E070	3577
chr2	64503545	64504893	E071	-48547
chr2	64511473	64511554	E071	-41886
chr2	64511755	64511828	E071	-41612
chr2	64511915	64512377	E071	-41063
chr2	64512536	64512644	E071	-40796
chr2	64512777	64512828	E071	-40612
chr2	64522545	64522598	E071	-30842
chr2	64538149	64540891	E071	-12549
chr2	64557532	64558820	E071	4092
chr2	64511915	64512377	E072	-41063
chr2	64512536	64512644	E072	-40796
chr2	64557532	64558820	E072	4092
chr2	64522662	64522714	E073	-30726
chr2	64522848	64522965	E073	-30475
chr2	64523031	64523071	E073	-30369
chr2	64523181	64523583	E073	-29857
chr2	64557532	64558820	E073	4092
chr2	64558890	64558983	E073	5450
chr2	64559025	64559113	E073	5585
chr2	64559142	64559275	E073	5702
chr2	64559338	64559486	E073	5898
chr2	64511755	64511828	E074	-41612
chr2	64511915	64512377	E074	-41063
chr2	64512536	64512644	E074	-40796
chr2	64538149	64540891	E074	-12549
chr2	64511755	64511828	E081	-41612
chr2	64511915	64512377	E081	-41063
chr2	64512536	64512644	E081	-40796
chr2	64512777	64512828	E081	-40612
chr2	64515376	64515478	E081	-37962
chr2	64515511	64516324	E081	-37116
chr2	64516474	64516850	E081	-36590
chr2	64523031	64523071	E081	-30369
chr2	64523181	64523583	E081	-29857
chr2	64538149	64540891	E081	-12549
chr2	64541303	64541380	E081	-12060
chr2	64542384	64542833	E081	-10607
chr2	64542914	64543000	E081	-10440
chr2	64543664	64543739	E081	-9701
chr2	64554379	64555703	E081	939
chr2	64557017	64557346	E081	3577
chr2	64557532	64558820	E081	4092
chr2	64594499	64594549	E081	41059
chr2	64595073	64595236	E081	41633
chr2	64511915	64512377	E082	-41063
chr2	64512536	64512644	E082	-40796
chr2	64538149	64540891	E082	-12549