rs7373878

Homo sapiens
G>T
ITGB5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0425 (12686/29806,GnomAD)
G==0473 (13790/29118,TOPMED)
G==0410 (2055/5008,1000G)
G==0371 (1428/3854,ALSPAC)
G==0375 (1390/3708,TWINSUK)
chr3:124891391 (GRCh38.p7) (3q21.2)
AD
GWASdb2
1   publication(s)
See rs on genome
87 Enhancers around
8 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.124891391G>T
GRCh37.p13 chr 3NC_000003.11:g.124610238G>T

Gene: ITGB5, integrin subunit beta 5(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ITGB5 transcript variant 1NM_002213.4:c.N/AGenic Upstream Transcript Variant
ITGB5 transcript variant X3XM_017006351.1:c.N/AIntron Variant
ITGB5 transcript variant X1XM_005247436.2:c.N/AGenic Upstream Transcript Variant
ITGB5 transcript variant X2XM_006713630.2:c.N/AGenic Upstream Transcript Variant
ITGB5 transcript variant X4XM_017006352.1:c.N/AGenic Upstream Transcript Variant
ITGB5 transcript variant X3XM_017006353.1:c.N/AGenic Upstream Transcript Variant
ITGB5 transcript variant X6XM_017006354.1:c.N/AGenic Upstream Transcript Variant
ITGB5 transcript variant X5XM_017006355.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.587T=0.413
1000GenomesAmericanSub694G=0.460T=0.540
1000GenomesEast AsianSub1008G=0.211T=0.789
1000GenomesEuropeSub1006G=0.376T=0.624
1000GenomesGlobalStudy-wide5008G=0.410T=0.590
1000GenomesSouth AsianSub978G=0.380T=0.620
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.371T=0.629
The Genome Aggregation DatabaseAfricanSub8668G=0.574T=0.426
The Genome Aggregation DatabaseAmericanSub836G=0.440T=0.560
The Genome Aggregation DatabaseEast AsianSub1606G=0.249T=0.751
The Genome Aggregation DatabaseEuropeSub18396G=0.371T=0.628
The Genome Aggregation DatabaseGlobalStudy-wide29806G=0.425T=0.574
The Genome Aggregation DatabaseOtherSub300G=0.360T=0.640
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.473T=0.526
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.375T=0.625
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs73738780.00097alcohol dependence24277619

eQTL of rs7373878 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr3:124610238ITGB5ENSG00000082781.7G>T3.4914e-3-10027Putamen_basal_ganglia

meQTL of rs7373878 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 )
chr3124564202124564833E067-45405
chr3124564860124565034E067-45204
chr3124565112124565279E067-44959
chr3124597069124598670E067-11568
chr3124602484124602677E067-7561
chr3124602730124602916E067-7322
chr3124603101124603262E067-6976
chr3124603399124603801E067-6437
chr3124607220124607359E067-2879
chr3124564202124564833E068-45405
chr3124564860124565034E068-45204
chr3124565112124565279E068-44959
chr3124565331124565422E068-44816
chr3124579340124580284E068-29954
chr3124592209124592471E068-17767
chr3124597069124598670E068-11568
chr3124600861124600913E068-9325
chr3124600914124601084E068-9154
chr3124602484124602677E068-7561
chr3124602730124602916E068-7322
chr3124603101124603262E068-6976
chr3124607220124607359E068-2879
chr3124564202124564833E069-45405
chr3124564860124565034E069-45204
chr3124565112124565279E069-44959
chr3124571009124571069E069-39169
chr3124581175124581248E069-28990
chr3124597069124598670E069-11568
chr3124601326124601406E069-8832
chr3124601538124602468E069-7770
chr3124602484124602677E069-7561
chr3124602730124602916E069-7322
chr3124638610124638909E06928372
chr3124639665124639864E06929427
chr3124601326124601406E070-8832
chr3124601538124602468E070-7770
chr3124602484124602677E070-7561
chr3124602730124602916E070-7322
chr3124635773124635913E07025535
chr3124635915124636101E07025677
chr3124564202124564833E071-45405
chr3124564860124565034E071-45204
chr3124565112124565279E071-44959
chr3124581175124581248E071-28990
chr3124592209124592471E071-17767
chr3124595417124595737E071-14501
chr3124597069124598670E071-11568
chr3124602484124602677E071-7561
chr3124602730124602916E071-7322
chr3124603101124603262E071-6976
chr3124603399124603801E071-6437
chr3124603812124603867E071-6371
chr3124604209124604308E071-5930
chr3124620196124620645E0719958
chr3124564202124564833E072-45405
chr3124570096124570390E072-39848
chr3124570715124570853E072-39385
chr3124571009124571069E072-39169
chr3124595252124595403E072-14835
chr3124595417124595737E072-14501
chr3124601538124602468E072-7770
chr3124602484124602677E072-7561
chr3124638610124638909E07228372
chr3124639665124639864E07229427
chr3124600861124600913E073-9325
chr3124600914124601084E073-9154
chr3124601326124601406E073-8832
chr3124601538124602468E073-7770
chr3124602484124602677E073-7561
chr3124602730124602916E073-7322
chr3124603101124603262E073-6976
chr3124603399124603801E073-6437
chr3124607220124607359E073-2879
chr3124564202124564833E074-45405
chr3124564860124565034E074-45204
chr3124565112124565279E074-44959
chr3124565331124565422E074-44816
chr3124597069124598670E074-11568
chr3124602484124602677E074-7561
chr3124602730124602916E074-7322
chr3124603101124603262E074-6976
chr3124603399124603801E074-6437
chr3124603812124603867E074-6371
chr3124604209124604308E074-5930
chr3124601538124602468E082-7770
chr3124602484124602677E082-7561
chr3124602730124602916E082-7322









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3124604428124606762E067-3476
chr3124604428124606762E068-3476
chr3124604428124606762E069-3476
chr3124604428124606762E071-3476
chr3124604428124606762E072-3476
chr3124604428124606762E073-3476
chr3124604428124606762E074-3476
chr3124604428124606762E082-3476