rs1973372

Homo sapiens
C>T
GRIA1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0046 (1404/29974,GnomAD)
T=0051 (1493/29118,TOPMED)
T=0027 (134/5008,1000G)
T=0080 (307/3854,ALSPAC)
T=0073 (272/3708,TWINSUK)
chr5:153582064 (GRCh38.p7) (5q33.2)
AD
GWASdb2
1   publication(s)
See rs on genome
109 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.153582064C>T
GRCh37.p13 chr 5NC_000005.9:g.152961624C>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=0.995T=0.005
1000GenomesAmericanSub694C=0.970T=0.030
1000GenomesEast AsianSub1008C=1.000T=0.000
1000GenomesEuropeSub1006C=0.932T=0.068
1000GenomesGlobalStudy-wide5008C=0.973T=0.027
1000GenomesSouth AsianSub978C=0.960T=0.040
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.920T=0.080
The Genome Aggregation DatabaseAfricanSub8730C=0.986T=0.014
The Genome Aggregation DatabaseAmericanSub836C=0.960T=0.040
The Genome Aggregation DatabaseEast AsianSub1622C=1.000T=0.000
The Genome Aggregation DatabaseEuropeSub18486C=0.934T=0.065
The Genome Aggregation DatabaseGlobalStudy-wide29974C=0.953T=0.046
The Genome Aggregation DatabaseOtherSub300C=0.890T=0.110
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.948T=0.051
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.927T=0.073
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs19733720.000918alcohol dependence21314694

eQTL of rs1973372 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr5:152961624GRIA1ENSG00000155511.13C>T1.7379e-391796Cerebellar_Hemisphere

meQTL of rs1973372 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 )
chr5152931113152931712E067-29912
chr5153005193153005768E06743569
chr5153008395153009455E06746771
chr5152919452152919521E068-42103
chr5152919600152919656E068-41968
chr5152919754152919889E068-41735
chr5152931113152931712E068-29912
chr5152931834152932024E068-29600
chr5152935146152935270E068-26354
chr5152935385152935541E068-26083
chr5152938671152938777E068-22847
chr5152951954152952790E068-8834
chr5153005916153006285E06844292
chr5153007204153007264E06845580
chr5153007466153007569E06845842
chr5153007731153007973E06846107
chr5153008395153009455E06846771
chr5152931113152931712E069-29912
chr5152951954152952790E069-8834
chr5152952936152953033E069-8591
chr5152953077152953150E069-8474
chr5152953335152953462E069-8162
chr5152953482152953633E069-7991
chr5153005193153005768E06943569
chr5153005916153006285E06944292
chr5153007204153007264E06945580
chr5153007466153007569E06945842
chr5153007731153007973E06946107
chr5153008395153009455E06946771
chr5152938000152938095E070-23529
chr5152938146152938239E070-23385
chr5152938671152938777E070-22847
chr5152938898152938985E070-22639
chr5152948035152948186E070-13438
chr5152948689152949046E070-12578
chr5152949234152949295E070-12329
chr5152951954152952790E070-8834
chr5152952936152953033E070-8591
chr5152953077152953150E070-8474
chr5152953335152953462E070-8162
chr5152953482152953633E070-7991
chr5152992559152992664E07030935
chr5152992744152993037E07031120
chr5153007204153007264E07045580
chr5153007466153007569E07045842
chr5153007731153007973E07046107
chr5153008395153009455E07046771
chr5152931113152931712E071-29912
chr5152931834152932024E071-29600
chr5152935018152935097E071-26527
chr5152935146152935270E071-26354
chr5152935385152935541E071-26083
chr5152948689152949046E071-12578
chr5152949234152949295E071-12329
chr5152975657152976007E07114033
chr5153008395153009455E07146771
chr5152931113152931712E072-29912
chr5152975657152976007E07214033
chr5153005916153006285E07244292
chr5153007731153007973E07246107
chr5153008395153009455E07246771
chr5152931113152931712E073-29912
chr5152931834152932024E073-29600
chr5153005916153006285E07344292
chr5153007466153007569E07345842
chr5153007731153007973E07346107
chr5153008395153009455E07346771
chr5152931113152931712E074-29912
chr5152935018152935097E074-26527
chr5153007466153007569E07445842
chr5153007731153007973E07446107
chr5152931113152931712E081-29912
chr5152938000152938095E081-23529
chr5152938146152938239E081-23385
chr5152938671152938777E081-22847
chr5152938898152938985E081-22639
chr5152948689152949046E081-12578
chr5152949234152949295E081-12329
chr5152950556152950625E081-10999
chr5152950834152951233E081-10391
chr5152951280152951433E081-10191
chr5152951715152951765E081-9859
chr5152951954152952790E081-8834
chr5152952936152953033E081-8591
chr5152953077152953150E081-8474
chr5152953335152953462E081-8162
chr5152953482152953633E081-7991
chr5153005916153006285E08144292
chr5153007204153007264E08145580
chr5153007466153007569E08145842
chr5153007731153007973E08146107
chr5153008395153009455E08146771
chr5152913802152913925E082-47699
chr5152938671152938777E082-22847
chr5152938898152938985E082-22639
chr5152948689152949046E082-12578
chr5152949234152949295E082-12329
chr5152951954152952790E082-8834
chr5152952936152953033E082-8591
chr5152953077152953150E082-8474
chr5152953335152953462E082-8162
chr5152953482152953633E082-7991
chr5152967893152968100E0826269
chr5152975657152976007E08214033
chr5153005916153006285E08244292
chr5153007204153007264E08245580
chr5153007466153007569E08245842
chr5153007731153007973E08246107
chr5153008395153009455E08246771