rs4504708

Homo sapiens
G>T
COL5A1 : 3 Prime UTR Variant
LOC101448202 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0229 (6866/29974,GnomAD)
G==0224 (6534/29118,TOPMED)
G==0243 (1215/5008,1000G)
G==0263 (1012/3854,ALSPAC)
G==0265 (984/3708,TWINSUK)
chr9:134844698 (GRCh38.p7) (9q34.3)
AD
GWASdb2
2   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.134844698G>T
GRCh37.p13 chr 9NC_000009.11:g.137736544G>T
COL5A1 RefSeqGene LRG_737

Gene: COL5A1, collagen type V alpha 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
COL5A1 transcript variant 2NM_001278074.1:c.N/A3 Prime UTR Variant
COL5A1 transcript variant 1NM_000093.4:c.N/A3 Prime UTR Variant
COL5A1 transcript variant X2XM_017014266.1:c.N/AGenic Downstream Transcript Variant
COL5A1 transcript variant X1XR_001746183.1:n.N/AGenic Downstream Transcript Variant

Gene: LOC101448202, uncharacterized LOC101448202(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC101448202 transcriptNR_103451.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.129T=0.871
1000GenomesAmericanSub694G=0.380T=0.620
1000GenomesEast AsianSub1008G=0.358T=0.642
1000GenomesEuropeSub1006G=0.229T=0.771
1000GenomesGlobalStudy-wide5008G=0.243T=0.757
1000GenomesSouth AsianSub978G=0.190T=0.810
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.263T=0.737
The Genome Aggregation DatabaseAfricanSub8730G=0.138T=0.862
The Genome Aggregation DatabaseAmericanSub838G=0.370T=0.630
The Genome Aggregation DatabaseEast AsianSub1618G=0.397T=0.603
The Genome Aggregation DatabaseEuropeSub18486G=0.250T=0.749
The Genome Aggregation DatabaseGlobalStudy-wide29974G=0.229T=0.770
The Genome Aggregation DatabaseOtherSub302G=0.280T=0.720
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.224T=0.775
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.265T=0.735
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
18443036Variants within the COL5A1 gene are associated with Achilles tendinopathy in two populations.September AVBr J Sports Med

P-Value

SNP ID p-value Traits Study
rs45047080.000254alcohol dependence21314694

eQTL of rs4504708 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 rs4504708 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 )
chr9137756260137756310E06919716
chr9137755804137756253E07019260
chr9137756260137756310E07019716
chr9137772311137772606E07035767
chr9137744741137745018E0718197
chr9137745054137745179E0718510
chr9137692625137693361E072-43183
chr9137722693137722743E072-13801
chr9137744450137744541E0727906
chr9137744741137745018E0728197
chr9137690918137691053E081-45491
chr9137691206137691301E081-45243
chr9137691515137692272E081-44272
chr9137692508137692558E081-43986
chr9137692625137693361E081-43183
chr9137693736137693815E081-42729
chr9137693867137694039E081-42505
chr9137694201137694262E081-42282
chr9137694375137694485E081-42059
chr9137694591137694662E081-41882
chr9137694917137694978E081-41566
chr9137696050137696159E081-40385
chr9137700279137700920E081-35624
chr9137701067137701269E081-35275
chr9137701309137701543E081-35001
chr9137701630137702068E081-34476
chr9137702215137702429E081-34115
chr9137703065137703120E081-33424
chr9137703176137703355E081-33189
chr9137703376137704512E081-32032
chr9137704537137704597E081-31947
chr9137704652137704753E081-31791
chr9137704773137704859E081-31685
chr9137705016137705266E081-31278
chr9137720242137720292E081-16252
chr9137720346137720555E081-15989
chr9137720687137720733E081-15811
chr9137721140137721190E081-15354
chr9137721324137721368E081-15176
chr9137721380137721458E081-15086
chr9137721519137721596E081-14948
chr9137721642137721721E081-14823
chr9137721847137722346E081-14198
chr9137722693137722743E081-13801
chr9137722835137723063E081-13481
chr9137723187137723304E081-13240
chr9137723505137723633E081-12911
chr9137723723137723793E081-12751
chr9137755192137755347E08118648
chr9137755449137755499E08118905
chr9137690918137691053E082-45491
chr9137691206137691301E082-45243
chr9137691515137692272E082-44272
chr9137692508137692558E082-43986
chr9137692625137693361E082-43183
chr9137693736137693815E082-42729
chr9137703376137704512E082-32032
chr9137704537137704597E082-31947
chr9137722693137722743E082-13801
chr9137726161137726318E082-10226
chr9137726351137726401E082-10143
chr9137726536137726580E082-9964
chr9137755804137756253E08219260
chr9137756260137756310E08219716