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rs7044529

From SNPedia

Orientationplus
Stabilizedplus
Make rs7044529(C;C)
Make rs7044529(C;T)
Make rs7044529(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position134676205
GeneCOL5A1
is asnp
is mentioned by
dbSNPrs7044529
ebirs7044529
HLIrs7044529
Exacrs7044529
Varsomers7044529
Maprs7044529
PheGenIrs7044529
hapmaprs7044529
1000 genomesrs7044529
hgdprs7044529
ensemblrs7044529
gopubmedrs7044529
geneviewrs7044529
scholarrs7044529
googlers7044529
pharmgkbrs7044529
gwascentralrs7044529
openSNPrs7044529
23andMers7044529
23andMe allrs7044529
SNP Nexus

SNPshotrs7044529
SNPdbers7044529
MSV3drs7044529
GWAS Ctlgrs7044529
GMAF0.1887
Max Magnitude
? (C;C) (C;T) (T;T) 28
GWAS snp
PMID [PMID 20719862]
Trait
Title New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8
Risk Allele A
P-val 5E-8
Odds Ratio 0.13 [0.09-0.18] unit decrease


[PMID 21098505] Collagen related genes influence glaucoma risk factor, central corneal thickness


[PMID 20485516OA-icon.png] Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness.

GWAS snp
PMID [PMID 23291589OA-icon.png]
Trait Corneal structure
Title Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
Risk Allele T
P-val 5E-12
Odds Ratio .13 [0.091-0.169] unit decrease


[PMID 23513063OA-icon.png] Genetic association of COL5A1 variants in keratoconus patients suggests a complex connection between corneal thinning and keratoconus.


[PMID 25675348] Evaluating the Association between Keratoconus and Reported Genetic Loci in a Han Chinese Population