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rs111033546

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111033546(C;C)
Make rs111033546(C;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position116120345
GeneCOL10A1, NT5DC1
is asnp
is mentioned by
dbSNPrs111033546
ebirs111033546
HLIrs111033546
Exacrs111033546
Varsomers111033546
Maprs111033546
PheGenIrs111033546
hapmaprs111033546
1000 genomesrs111033546
hgdprs111033546
ensemblrs111033546
gopubmedrs111033546
geneviewrs111033546
scholarrs111033546
googlers111033546
pharmgkbrs111033546
gwascentralrs111033546
openSNPrs111033546
23andMers111033546
23andMe allrs111033546
SNP Nexus

SNPshotrs111033546
SNPdbers111033546
MSV3drs111033546
GWAS Ctlgrs111033546
Max Magnitude0
OMIM120110
Desc
Variant0004
Relatedalso
ClinVar
Risk rs111033546(C;C)
Alt rs111033546(C;C)
Reference rs111033546(T;T)
Significance Pathogenic
Disease Metaphyseal chondrodysplasia
Variation info
Gene NT5DC1 COL10A1
CLNDBN Metaphyseal chondrodysplasia, Schmid type
Reversed 1
HGVS NC_000006.11:g.116441508A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019019.27,


[PMID 8004099] Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus.