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rs1800255

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 2.5 increased risk for pelvic organ prolapse
(A;G) 1 benign
(G;G) 0 normal
ReferenceGRCh38 38.1/141
Chromosome2
Position188999354
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs1800255
dbSNP (old)rs1800255
ClinGenrs1800255
ebirs1800255
HLIrs1800255
Exacrs1800255
Gnomadrs1800255
Varsomers1800255
LitVarrs1800255
Maprs1800255
PheGenIrs1800255
Biobankrs1800255
1000 genomesrs1800255
hgdprs1800255
ensemblrs1800255
gopubmedrs1800255
geneviewrs1800255
scholarrs1800255
googlers1800255
pharmgkbrs1800255
gwascentralrs1800255
openSNPrs1800255
23andMers1800255
23andMe allrs1800255
SNPshotrs1800255
SNPdbers1800255
MSV3drs1800255
GWAS Ctlgrs1800255
GMAF0.2094
Max Magnitude2.5
? (A;A) (A;G) (G;G) 28

rs1800255, aka c.2092G>A, A698T or p.Ala698Thr, is a SNP in the alpha I chain of the type III collagen protein-encoding COL3A1 gene.

A relatively small study (200 patients) reported an odds ratio of 5 (CI: 1.4-17.1) between rs1800255(A;A) homozygotes and risk for pelvic organ prolapse. No significance was found for the heterozygous genotype.[PMID 19444361]

A meta-analysis published in 2014 reported that the rs1800255(A;A) genotype was associated with pelvic organ prolapse (OR 4.79; CI: 1.91-11.98, p = .001) compared with the reference genotype (G;G) in populations of Asian and Dutch women.[PMID 24721264OA-icon.png]

OMIM120180
Desc
Variant0007
Relatedalso


[PMID 22241462] A functional variant of the collagen type III alpha1 gene modify risk of sporadic intracranial aneurysms


ClinVar
Risk Rs1800255(A;A)
Alt Rs1800255(A;A)
Reference Rs1800255(G;G)
Significance Non-pathogenic
Disease COLLAGEN TYPE III POLYMORPHISM not specified Thoracic aortic aneurysm and aortic dissection Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN COLLAGEN TYPE III POLYMORPHISM not specified Thoracic aortic aneurysm and aortic dissection Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189864080G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000018745.2, RCV000177438.3, RCV000251322.1, RCV000395000.1,



[PMID 18642782] [Correlation of COL3A1 gene with type III collagen stability in intracranial aneurysm].


[PMID 18722615] Collagen type 3 alpha 1 polymorphism and risk of pelvic organ prolapse.


[PMID 19398442OA-icon.png] Collagen type III alpha I is a gastro-oesophageal reflux disease susceptibility gene and a male risk factor for hiatus hernia.


[PMID 21219851] A novel mutation screening system for Ehlers-Danlos Syndrome, vascular type by high-resolution melting curve analysis in combination with small amplicon genotyping using genomic DNA.


[PMID 23013106] No association between COL3A1, COL6A1 or COL12A1 gene variants and range of motion


[PMID 22894972] Collagen genes and exercise-associated muscle cramping


[PMID 26060338OA-icon.png] Overrepresentation of the COL3A1 AA genotype in Polish skiers with anterior cruciate ligament injury


[PMID 29086084] The association between collagen gene polymorphisms and intracranial aneurysms: a meta-analysis.


[PMID 30121816] Genetic Risk Factors for Intracranial Aneurysm in the Kazakh Population.