GWAS Catalog

Location

1:196713817

Cytogenetic region

Most severe consequence

Synonymous variant

Mapped gene(s)

Alleles

Minor allele

MAF

GWAS Catalog data is currently mapped to Genome Assembly GRCh38.p14 and dbSNP Build156

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

rs2274700-A	4 x 10^-12	-	0.3862	-	0.034 unit decrease	-	CFH	Lactate dehydrogenase levels	L lactate dehydrogenase measurement	-	GCST010069	1:196713817
rs2274700-A	6 x 10^-7	-	0.4	-	0.012 unit increase	NR	CFH	Post bronchodilator FEV1/FVC ratio in COPD	FEV/FVC ratio, response to bronchodilator	chronic obstructive pulmonary disease	GCST003265	1:196713817
rs2274700-?	2 x 10^-7	-	NR	1.25	-	[1.15-1.36]	CFH	Fuchs's corneal dystrophy	Fuchs endothelial corneal dystrophy	-	GCST004217	1:196713817
rs2274700-A	2 x 10^-51	-	0.399	-	0.37 unit increase	[0.33-0.41]	CFH	Complement factor H levels (CFH.4159.130.1)	complement factor H measurement	-	GCST90240779	1:196713817

Showing 1 to 4 of 4 entries

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

Sun BB	GCST90240779	2018-06-06	Nature	Genomic atlas of the human plasma proteome.	Complement factor H levels (CFH.4159.130.1)	complement factor H measurement	-	• 3301 European		2	FTP Download
Afshari NA	GCST004217	2017-03-30	Nat Commun	Genome-wide association study identifies three…	Fuchs's corneal dystrophy	Fuchs endothelial corneal dystrophy	-	• 3968 European	• 1449 European	6	Not available
Kristjansson RP	GCST010069	2016-02-03	Nat Commun	Common and rare variants associating with serum…	Lactate dehydrogenase levels	L lactate dehydrogenase measurement	-	• 52581 European • 46004 European		15	Not available
Lutz SM	GCST003265	2015-12-03	BMC Genet	A genome-wide association study identifies risk…	Post bronchodilator FEV1/FVC ratio in COPD	FEV/FVC ratio, response to bronchodilator	chronic obstructive pulmonary disease	• 821 African American or Afro-Caribbean • 5439 European		473	Not available

Showing 1 to 4 of 4 entries

Variant: rs2274700