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rs111033544

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111033544(G;G)
Make rs111033544(G;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position116120324
GeneCOL10A1, NT5DC1
is asnp
is mentioned by
dbSNPrs111033544
ebirs111033544
HLIrs111033544
Exacrs111033544
Varsomers111033544
Maprs111033544
PheGenIrs111033544
hapmaprs111033544
1000 genomesrs111033544
hgdprs111033544
ensemblrs111033544
gopubmedrs111033544
geneviewrs111033544
scholarrs111033544
googlers111033544
pharmgkbrs111033544
gwascentralrs111033544
openSNPrs111033544
23andMers111033544
23andMe allrs111033544
SNP Nexus

SNPshotrs111033544
SNPdbers111033544
MSV3drs111033544
GWAS Ctlgrs111033544
Max Magnitude0
OMIM120110
Desc
Variant0002
Relatedalso
ClinVar
Risk rs111033544(G;G)
Alt rs111033544(G;G)
Reference rs111033544(T;T)
Significance Pathogenic
Disease Metaphyseal chondrodysplasia
Variation info
Gene NT5DC1 COL10A1
CLNDBN Metaphyseal chondrodysplasia, Schmid type
Reversed 1
HGVS NC_000006.11:g.116441487A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000019017.27,


[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.