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rs111033550

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033550(A;A)
Make rs111033550(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position116125441
GeneCOL10A1, NT5DC1
is asnp
is mentioned by
dbSNPrs111033550
ebirs111033550
HLIrs111033550
Exacrs111033550
Varsomers111033550
Maprs111033550
PheGenIrs111033550
hapmaprs111033550
1000 genomesrs111033550
hgdprs111033550
ensemblrs111033550
gopubmedrs111033550
geneviewrs111033550
scholarrs111033550
googlers111033550
pharmgkbrs111033550
gwascentralrs111033550
openSNPrs111033550
23andMers111033550
23andMe allrs111033550
SNP Nexus

SNPshotrs111033550
SNPdbers111033550
MSV3drs111033550
GWAS Ctlgrs111033550
Max Magnitude0
OMIM120110
Desc
Variant0012
Relatedalso
ClinVar
Risk rs111033550(A;A)
Alt rs111033550(A;A)
Reference rs111033550(G;G)
Significance Pathogenic
Disease Metaphyseal chondrodysplasia
Variation info
Gene COL10A1 NT5DC1
CLNDBN Metaphyseal chondrodysplasia, Schmid type
Reversed 1
HGVS NC_000006.11:g.116446604C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019027.27,


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