GWAS Catalog

Gene: COL6A1

Gene information

Gene name

COL6A1

Description

collagen type VI alpha 1 chain

Location

21:45981770-46005050

Cytogenetic region

Biotype

protein_coding

Available data:

Associations 82

Show entries

Variant and risk allele	P-value	P-value annotation	RAF	OR	Beta	CI	Mapped gene	Reported trait	Trait(s)	Background trait(s)	Study accession	Location

rs142493024-G	8 x 10^-98	-	0.986	-	0.595 unit increase	[0.54-0.65]	COL6A1	Corneal hysteresis	corneal hysteresis	-	GCST011391	21:45993879
rs142493024-G	1 x 10^-101	-	0.986	-	0.66 unit increase	[0.6-0.72]	COL6A1	Corneal resistance factor	corneal resistance factor	-	GCST011390	21:45993879
rs13051496-?	4 x 10^-15	-	NR	-	-	-	COL6A1	Waist circumference adjusted for body mass index	BMI-adjusted waist circumference	-	GCST009867	21:46003595
rs148766287-?	1 x 10^-7	-	NR	-	0.31 unit decrease	-	COL6A1	Corneal hysteresis	corneal hysteresis	-	GCST008315	21:45984508
rs148766287-?	2 x 10^-10	-	NR	-	0.37 unit decrease	-	COL6A1	Corneal resistance factor	corneal resistance factor	-	GCST008318	21:45984508

Showing 1 to 5 of 82 entries

Studies68

Show entries

First author	Study accession	Pub. date	Journal	Title	Reported trait	Trait(s)	Background trait(s)	Discovery sample number	Replication sample number	Association count	Summary statistics

First author	Study accession	Pub. date	Journal	Title	Reported trait	Trait(s)	Background trait(s)	Discovery sample number	Replication sample number	Association count	Summary statistics

Western D	GCST90422875	2024-11-11	Nat Genet	Proteogenomic analysis of human cerebrospinal…	Collagen alpha-1(VI) chain (analyte X16828.8) levels	protein measurement	-	• 2721 European		1	FTP Download
Western D	GCST90422069	2024-11-11	Nat Genet	Proteogenomic analysis of human cerebrospinal…	Valine--tRNA ligase levels	protein measurement	-	• 3506 European		1	FTP Download
Surapaneni A	GCST90234582	2022-07-21	Kidney Int	Identification of 969 protein quantitative trait…	Collagen alpha-1(VI) chain level in Chronic kidney disease with hypertension and no diabetes (16828_8)	level of collagen alpha-1(VI) chain in blood serum	chronic kidney disease, hypertension	• 466 African American or Afro-Caribbean		1	FTP Download
Pietzner M	GCST90247085	2021-11-12	Science	Mapping the proteo-genomic convergence of human…	Collagen alpha-1(VI) chain levels	collagen alpha-1(VI) chain measurement	-	• 10708 European		2	Not available
Western D	GCST90424997	2024-11-11	Nat Genet	Proteogenomic analysis of human cerebrospinal…	Poly(rC)-binding protein 3 levels	protein measurement	-	• 2549 European		1	FTP Download

Showing 1 to 5 of 68 entries