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rs111033554

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs111033554(A;G)
Make rs111033554(G;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position116120326
GeneCOL10A1, NT5DC1
is asnp
is mentioned by
dbSNPrs111033554
ebirs111033554
HLIrs111033554
Exacrs111033554
Varsomers111033554
Maprs111033554
PheGenIrs111033554
hapmaprs111033554
1000 genomesrs111033554
hgdprs111033554
ensemblrs111033554
gopubmedrs111033554
geneviewrs111033554
scholarrs111033554
googlers111033554
pharmgkbrs111033554
gwascentralrs111033554
openSNPrs111033554
23andMers111033554
23andMe allrs111033554
SNP Nexus

SNPshotrs111033554
SNPdbers111033554
MSV3drs111033554
GWAS Ctlgrs111033554
Max Magnitude0
OMIM120110
Desc
Variant0017
Relatedalso
ClinVar
Risk rs111033554(G;G)
Alt rs111033554(G;G)
Reference rs111033554(A;A)
Significance Pathogenic
Disease Metaphyseal chondrodysplasia
Variation info
Gene NT5DC1 COL10A1
CLNDBN Metaphyseal chondrodysplasia, Schmid type
Reversed 1
HGVS NC_000006.11:g.116441489T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000019032.28,


[PMID 9852679] Novel missense mutation resulting in the substitution of tyrosine by cysteine at codon 597 of the type X collagen gene associated with Schmid metaphyseal chondrodysplasia.