Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 9 | NC_000009.12:g.134844698G>T |
GRCh37.p13 chr 9 | NC_000009.11:g.137736544G>T |
COL5A1 RefSeqGene | LRG_737 |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
COL5A1 transcript variant 2 | NM_001278074.1:c. | N/A | 3 Prime UTR Variant |
COL5A1 transcript variant 1 | NM_000093.4:c. | N/A | 3 Prime UTR Variant |
COL5A1 transcript variant X2 | XM_017014266.1:c. | N/A | Genic Downstream Transcript Variant |
COL5A1 transcript variant X1 | XR_001746183.1:n. | N/A | Genic Downstream Transcript Variant |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
LOC101448202 transcript | NR_103451.2:n. | N/A | Intron Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | G=0.129 | T=0.871 |
1000Genomes | American | Sub | 694 | G=0.380 | T=0.620 |
1000Genomes | East Asian | Sub | 1008 | G=0.358 | T=0.642 |
1000Genomes | Europe | Sub | 1006 | G=0.229 | T=0.771 |
1000Genomes | Global | Study-wide | 5008 | G=0.243 | T=0.757 |
1000Genomes | South Asian | Sub | 978 | G=0.190 | T=0.810 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.263 | T=0.737 |
The Genome Aggregation Database | African | Sub | 8730 | G=0.138 | T=0.862 |
The Genome Aggregation Database | American | Sub | 838 | G=0.370 | T=0.630 |
The Genome Aggregation Database | East Asian | Sub | 1618 | G=0.397 | T=0.603 |
The Genome Aggregation Database | Europe | Sub | 18486 | G=0.250 | T=0.749 |
The Genome Aggregation Database | Global | Study-wide | 29974 | G=0.229 | T=0.770 |
The Genome Aggregation Database | Other | Sub | 302 | G=0.280 | T=0.720 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | G=0.224 | T=0.775 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.265 | T=0.735 |
PMID | Title | Author | Journal |
---|---|---|---|
21314694 | Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample. | Kendler KS | Alcohol Clin Exp Res |
18443036 | Variants within the COL5A1 gene are associated with Achilles tendinopathy in two populations. | September AV | Br J Sports Med |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs4504708 | 0.000254 | alcohol dependence | 21314694 |
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 |
There is no significant Hi-C chromatin interaction data for this SNP.
Chromosome | Start | End | Region | Distance ( -/+ : Up/Downstream ) |
---|---|---|---|---|
chr9 | 137756260 | 137756310 | E069 | 19716 |
chr9 | 137755804 | 137756253 | E070 | 19260 |
chr9 | 137756260 | 137756310 | E070 | 19716 |
chr9 | 137772311 | 137772606 | E070 | 35767 |
chr9 | 137744741 | 137745018 | E071 | 8197 |
chr9 | 137745054 | 137745179 | E071 | 8510 |
chr9 | 137692625 | 137693361 | E072 | -43183 |
chr9 | 137722693 | 137722743 | E072 | -13801 |
chr9 | 137744450 | 137744541 | E072 | 7906 |
chr9 | 137744741 | 137745018 | E072 | 8197 |
chr9 | 137690918 | 137691053 | E081 | -45491 |
chr9 | 137691206 | 137691301 | E081 | -45243 |
chr9 | 137691515 | 137692272 | E081 | -44272 |
chr9 | 137692508 | 137692558 | E081 | -43986 |
chr9 | 137692625 | 137693361 | E081 | -43183 |
chr9 | 137693736 | 137693815 | E081 | -42729 |
chr9 | 137693867 | 137694039 | E081 | -42505 |
chr9 | 137694201 | 137694262 | E081 | -42282 |
chr9 | 137694375 | 137694485 | E081 | -42059 |
chr9 | 137694591 | 137694662 | E081 | -41882 |
chr9 | 137694917 | 137694978 | E081 | -41566 |
chr9 | 137696050 | 137696159 | E081 | -40385 |
chr9 | 137700279 | 137700920 | E081 | -35624 |
chr9 | 137701067 | 137701269 | E081 | -35275 |
chr9 | 137701309 | 137701543 | E081 | -35001 |
chr9 | 137701630 | 137702068 | E081 | -34476 |
chr9 | 137702215 | 137702429 | E081 | -34115 |
chr9 | 137703065 | 137703120 | E081 | -33424 |
chr9 | 137703176 | 137703355 | E081 | -33189 |
chr9 | 137703376 | 137704512 | E081 | -32032 |
chr9 | 137704537 | 137704597 | E081 | -31947 |
chr9 | 137704652 | 137704753 | E081 | -31791 |
chr9 | 137704773 | 137704859 | E081 | -31685 |
chr9 | 137705016 | 137705266 | E081 | -31278 |
chr9 | 137720242 | 137720292 | E081 | -16252 |
chr9 | 137720346 | 137720555 | E081 | -15989 |
chr9 | 137720687 | 137720733 | E081 | -15811 |
chr9 | 137721140 | 137721190 | E081 | -15354 |
chr9 | 137721324 | 137721368 | E081 | -15176 |
chr9 | 137721380 | 137721458 | E081 | -15086 |
chr9 | 137721519 | 137721596 | E081 | -14948 |
chr9 | 137721642 | 137721721 | E081 | -14823 |
chr9 | 137721847 | 137722346 | E081 | -14198 |
chr9 | 137722693 | 137722743 | E081 | -13801 |
chr9 | 137722835 | 137723063 | E081 | -13481 |
chr9 | 137723187 | 137723304 | E081 | -13240 |
chr9 | 137723505 | 137723633 | E081 | -12911 |
chr9 | 137723723 | 137723793 | E081 | -12751 |
chr9 | 137755192 | 137755347 | E081 | 18648 |
chr9 | 137755449 | 137755499 | E081 | 18905 |
chr9 | 137690918 | 137691053 | E082 | -45491 |
chr9 | 137691206 | 137691301 | E082 | -45243 |
chr9 | 137691515 | 137692272 | E082 | -44272 |
chr9 | 137692508 | 137692558 | E082 | -43986 |
chr9 | 137692625 | 137693361 | E082 | -43183 |
chr9 | 137693736 | 137693815 | E082 | -42729 |
chr9 | 137703376 | 137704512 | E082 | -32032 |
chr9 | 137704537 | 137704597 | E082 | -31947 |
chr9 | 137722693 | 137722743 | E082 | -13801 |
chr9 | 137726161 | 137726318 | E082 | -10226 |
chr9 | 137726351 | 137726401 | E082 | -10143 |
chr9 | 137726536 | 137726580 | E082 | -9964 |
chr9 | 137755804 | 137756253 | E082 | 19260 |
chr9 | 137756260 | 137756310 | E082 | 19716 |