SNP Detail Info-rs4128572

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

GRIA1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A==0412 (12309/29864,GnomAD)
A==0407 (11850/29118,TOPMED)
A==0283 (1418/5008,1000G)
A==0458 (1764/3854,ALSPAC)
A==0465 (1724/3708,TWINSUK)

Position: chr5:153749155 (GRCh38.p7) (5q33.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 16 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 5	NC_000005.10:g.153749155A>G
GRCh37.p13 chr 5	NC_000005.9:g.153128715A>G

Molecule type	Change	Amino acid[Codon]	SO Term
GRIA1 transcript variant 1	NM_000827.3:c.	N/A	Intron Variant
GRIA1 transcript variant 2	NM_001114183.1:c.	N/A	Intron Variant
GRIA1 transcript variant 3	NM_001258019.1:c.	N/A	Intron Variant
GRIA1 transcript variant 4	NM_001258020.1:c.	N/A	Intron Variant
GRIA1 transcript variant 5	NM_001258021.1:c.	N/A	Intron Variant
GRIA1 transcript variant 6	NM_001258022.1:c.	N/A	Intron Variant
GRIA1 transcript variant 7	NM_001258023.1:c.	N/A	Intron Variant
GRIA1 transcript variant 8	NR_047578.1:n.	N/A	Intron Variant
GRIA1 transcript variant X1	XM_011537635.2:c.	N/A	Intron Variant
GRIA1 transcript variant X1	XM_017009392.1:c.	N/A	Intron Variant
GRIA1 transcript variant X2	XM_017009393.1:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.335	G=0.665
1000Genomes	American	Sub	694	A=0.360	G=0.640
1000Genomes	East Asian	Sub	1008	A=0.069	G=0.931
1000Genomes	Europe	Sub	1006	A=0.447	G=0.553
1000Genomes	Global	Study-wide	5008	A=0.283	G=0.717
1000Genomes	South Asian	Sub	978	A=0.210	G=0.790
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.458	G=0.542
The Genome Aggregation Database	African	Sub	8688	A=0.356	G=0.644
The Genome Aggregation Database	American	Sub	838	A=0.300	G=0.700
The Genome Aggregation Database	East Asian	Sub	1618	A=0.057	G=0.943
The Genome Aggregation Database	Europe	Sub	18420	A=0.474	G=0.525
The Genome Aggregation Database	Global	Study-wide	29864	A=0.412	G=0.587
The Genome Aggregation Database	Other	Sub	300	A=0.450	G=0.550
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.407	G=0.593
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.465	G=0.535

PMID	Title	Author	Journal
21529783	A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.	Heath AC	Biol Psychiatry

SNP ID	p-value	Traits	Study
rs4128572	7.9E-05	alcoholism (heaviness of drinking)	21529783

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

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr5	153125491	153125541	E067	-3174
chr5	153157464	153157567	E068	28749
chr5	153157794	153157938	E068	29079
chr5	153178303	153178399	E068	49588
chr5	153129519	153129761	E070	804
chr5	153129818	153130292	E070	1103
chr5	153157464	153157567	E070	28749
chr5	153157794	153157938	E070	29079
chr5	153159655	153159737	E070	30940
chr5	153160545	153160831	E070	31830
chr5	153160962	153161479	E070	32247
chr5	153166477	153166613	E070	37762
chr5	153157464	153157567	E071	28749
chr5	153157464	153157567	E081	28749
chr5	153154227	153154778	E082	25512
chr5	153160545	153160831	E082	31830

rs4128572