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

rs111033545

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111033545(C;C)
Make rs111033545(C;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position116120275
GeneCOL10A1, NT5DC1
is asnp
is mentioned by
dbSNPrs111033545
ebirs111033545
HLIrs111033545
Exacrs111033545
Varsomers111033545
Maprs111033545
PheGenIrs111033545
hapmaprs111033545
1000 genomesrs111033545
hgdprs111033545
ensemblrs111033545
gopubmedrs111033545
geneviewrs111033545
scholarrs111033545
googlers111033545
pharmgkbrs111033545
gwascentralrs111033545
openSNPrs111033545
23andMers111033545
23andMe allrs111033545
SNP Nexus

SNPshotrs111033545
SNPdbers111033545
MSV3drs111033545
GWAS Ctlgrs111033545
Max Magnitude0
OMIM120110
Desc
Variant0003
Relatedalso
ClinVar
Risk rs111033545(C;C)
Alt rs111033545(C;C)
Reference rs111033545(T;T)
Significance Pathogenic
Disease Metaphyseal chondrodysplasia
Variation info
Gene NT5DC1 COL10A1
CLNDBN Metaphyseal chondrodysplasia, Schmid type
Reversed 1
HGVS NC_000006.11:g.116441438A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019018.23,


[PMID 8304336OA-icon.png] Amino acid substitutions of conserved residues in the carboxyl-terminal domain of the alpha 1(X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid.