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rs111033551

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033551(A;A)
Make rs111033551(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position116125440
GeneCOL10A1, NT5DC1
is asnp
is mentioned by
dbSNPrs111033551
ebirs111033551
HLIrs111033551
Exacrs111033551
Varsomers111033551
Maprs111033551
PheGenIrs111033551
hapmaprs111033551
1000 genomesrs111033551
hgdprs111033551
ensemblrs111033551
gopubmedrs111033551
geneviewrs111033551
scholarrs111033551
googlers111033551
pharmgkbrs111033551
gwascentralrs111033551
openSNPrs111033551
23andMers111033551
23andMe allrs111033551
SNP Nexus

SNPshotrs111033551
SNPdbers111033551
MSV3drs111033551
GWAS Ctlgrs111033551
Max Magnitude0
OMIM120110
Desc
Variant0013
Relatedalso
ClinVar
Risk rs111033551(A;A)
Alt rs111033551(A;A)
Reference rs111033551(G;G)
Significance Pathogenic
Disease Metaphyseal chondrodysplasia
Variation info
Gene COL10A1 NT5DC1
CLNDBN Metaphyseal chondrodysplasia, Schmid type
Reversed 1
HGVS NC_000006.11:g.116446603C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019028.27,


[PMID 9067753] Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia.