rs2963998

Homo sapiens
C>A / C>T
GRIA1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0386 (11569/29926,GnomAD)
C==0370 (10797/29118,TOPMED)
C==0256 (1284/5008,1000G)
C==0456 (1758/3854,ALSPAC)
C==0465 (1725/3708,TWINSUK)
chr5:153797493 (GRCh38.p7) (5q33.2)
AD
GWASdb2
1   publication(s)
See rs on genome
16 Enhancers around
7 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.153797493C>A
GRCh38.p7 chr 5NC_000005.10:g.153797493C>T
GRCh37.p13 chr 5NC_000005.9:g.153177053C>A
GRCh37.p13 chr 5NC_000005.9:g.153177053C>T

Gene: GRIA1, glutamate ionotropic receptor AMPA type subunit 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
GRIA1 transcript variant 1NM_000827.3:c.N/AIntron Variant
GRIA1 transcript variant 2NM_001114183.1:c.N/AIntron Variant
GRIA1 transcript variant 3NM_001258019.1:c.N/AIntron Variant
GRIA1 transcript variant 4NM_001258020.1:c.N/AIntron Variant
GRIA1 transcript variant 5NM_001258021.1:c.N/AIntron Variant
GRIA1 transcript variant 6NM_001258022.1:c.N/AIntron Variant
GRIA1 transcript variant 7NM_001258023.1:c.N/AIntron Variant
GRIA1 transcript variant 8NR_047578.1:n.N/AIntron Variant
GRIA1 transcript variant X1XM_011537635.2:c.N/AIntron Variant
GRIA1 transcript variant X1XM_017009392.1:c.N/AIntron Variant
GRIA1 transcript variant X2XM_017009393.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.241T=0.759
1000GenomesAmericanSub694C=0.350T=0.650
1000GenomesEast AsianSub1008C=0.067T=0.933
1000GenomesEuropeSub1006C=0.447T=0.553
1000GenomesGlobalStudy-wide5008C=0.256T=0.744
1000GenomesSouth AsianSub978C=0.210T=0.790
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.456T=0.544
The Genome Aggregation DatabaseAfricanSub8708C=0.271T=0.729
The Genome Aggregation DatabaseAmericanSub836C=0.290T=0.710
The Genome Aggregation DatabaseEast AsianSub1614C=0.057T=0.943
The Genome Aggregation DatabaseEuropeSub18466C=0.473T=0.526
The Genome Aggregation DatabaseGlobalStudy-wide29926C=0.386T=0.613
The Genome Aggregation DatabaseOtherSub302C=0.450T=0.550
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.370T=0.629
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.465T=0.535
PMID Title Author Journal
21529783A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.Heath ACBiol Psychiatry

P-Value

SNP ID p-value Traits Study
rs29639987.1E-05alcoholism (heaviness of drinking)21529783

eQTL of rs2963998 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 rs2963998 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 )
chr56683421766834263E067-32370
chr56683428066834344E067-32289
chr56683421766834263E068-32370
chr56683428066834344E068-32289
chr56683505866835271E068-31362
chr56683252566833144E069-33489
chr56688599166886045E07019358
chr56683421766834263E071-32370
chr56683428066834344E071-32289
chr56683505866835271E071-31362
chr56688746666887580E07120833
chr56683252566833144E072-33489
chr56683421766834263E072-32370
chr56683428066834344E072-32289
chr56683505866835271E072-31362
chr56683505866835271E073-31362







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr56683340766833553E067-33080
chr56683340766833553E068-33080
chr56683340766833553E069-33080
chr56683340766833553E071-33080
chr56683340766833553E072-33080
chr56683340766833553E073-33080
chr56683340766833553E074-33080