Have questions? Visit https://www.reddit.com/r/SNPedia

rs1676486

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 2 >1.4x risk for LDH
(A;G) 2 1.4x risk for LDH
(G;G) 0
ReferenceGRCh38 38.1/141
Chromosome1
Position102888582
GeneCOL11A1
is asnp
is mentioned by
dbSNPrs1676486
ebirs1676486
HLIrs1676486
Exacrs1676486
Varsomers1676486
Maprs1676486
PheGenIrs1676486
hapmaprs1676486
1000 genomesrs1676486
hgdprs1676486
ensemblrs1676486
gopubmedrs1676486
geneviewrs1676486
scholarrs1676486
googlers1676486
pharmgkbrs1676486
gwascentralrs1676486
openSNPrs1676486
23andMers1676486
23andMe allrs1676486
SNP Nexus

SNPshotrs1676486
SNPdbers1676486
MSV3drs1676486
GWAS Ctlgrs1676486
GMAF0.1846
Max Magnitude2
? (A;A) (A;G) (G;G) 28
Lumbar disc herniation (LDH), a form of lumbar disc disease, is one of the most common musculoskeletal diseases. rs1676486, a SNP also known as c.4603C-->T in the COLL11A1 gene (one of 3 Type XI collagen genes), has been implicated in a study of ~800 Japanese patients as being associated with LDH. The risk allele in dbSNP orientation is (A), and the odds ratio associated with the allele is 1.42 (CI: 1.23 - 1.65). [PMID 17999364OA-icon.png]


Venter snp
Source plos
Gene COL11A1
allele G
frequency 0.833
sift TOLERATED
HuRef 1103675180140
Disease Association Defects in COL11A1 are the cause of Marshall syndrome (MIM:154780). It is an autosomal dominant disorder with ocular, oro-facial, auditory and skeletal manifestations. It shares several features with Stickler syndrome, such as midfacial hypoplasia, high myopia, and sensorineural-hearing deficit.



OMIM120280
DescCOLLAGEN, TYPE XI, ALPHA-1; COL11A1
Variant
Relatedalso



GET Evidence
COL11A1-S1419P
aa_change Ser1419Pro
aa_change_short S1419P
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency
summary



[PMID 23497244OA-icon.png] Allelic expression analysis of the osteoarthritis susceptibility gene COL11A1 in human joint tissues


[PMID 23624467] Association of type XI collagen genes with chronic Achilles tendinopathy in independent populations from South Africa and Australia.


[PMID 24854855] Extended association study of PLEKHA7 and COL11A1 with primary angle closure glaucoma in a Han Chinese population


ClinVar
Risk rs1676486(G;G)
Alt rs1676486(G;G)
Reference rs1676486(A;A)
Significance Other
Disease Lumbar disc herniation
Variation info
Gene COL11A1
CLNDBN Lumbar disc herniation, susceptibility to
Reversed 0
HGVS NC_000001.10:g.103354138A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000018675.5,