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rs111033553

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033553(A;A)
Make rs111033553(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position116120332
GeneCOL10A1, NT5DC1
is asnp
is mentioned by
dbSNPrs111033553
ebirs111033553
HLIrs111033553
Exacrs111033553
Varsomers111033553
Maprs111033553
PheGenIrs111033553
hapmaprs111033553
1000 genomesrs111033553
hgdprs111033553
ensemblrs111033553
gopubmedrs111033553
geneviewrs111033553
scholarrs111033553
googlers111033553
pharmgkbrs111033553
gwascentralrs111033553
openSNPrs111033553
23andMers111033553
23andMe allrs111033553
SNP Nexus

SNPshotrs111033553
SNPdbers111033553
MSV3drs111033553
GWAS Ctlgrs111033553
Max Magnitude0
OMIM120110
Desc
Variant0016
Relatedalso
ClinVar
Risk rs111033553(A;A)
Alt rs111033553(A;A)
Reference rs111033553(G;G)
Significance Pathogenic
Disease Metaphyseal chondrodysplasia
Variation info
Gene NT5DC1 COL10A1
CLNDBN Metaphyseal chondrodysplasia, Schmid type
Reversed 1
HGVS NC_000006.11:g.116441495C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019031.28,


[PMID 7607655] Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias.