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

rs111033548

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033548(A;A)
Make rs111033548(A;C)
ReferenceGRCh38 38.1/141
Chromosome6
Position116120220
GeneCOL10A1, NT5DC1
is asnp
is mentioned by
dbSNPrs111033548
ebirs111033548
HLIrs111033548
Exacrs111033548
Varsomers111033548
Maprs111033548
PheGenIrs111033548
hapmaprs111033548
1000 genomesrs111033548
hgdprs111033548
ensemblrs111033548
gopubmedrs111033548
geneviewrs111033548
scholarrs111033548
googlers111033548
pharmgkbrs111033548
gwascentralrs111033548
openSNPrs111033548
23andMers111033548
23andMe allrs111033548
SNP Nexus

SNPshotrs111033548
SNPdbers111033548
MSV3drs111033548
GWAS Ctlgrs111033548
Max Magnitude0
OMIM120110
Desc
Variant0015
Relatedalso
ClinVar
Risk rs111033548(A;A)
Alt rs111033548(A;A)
Reference rs111033548(C;C)
Significance Pathogenic
Disease Metaphyseal chondrodysplasia
Variation info
Gene NT5DC1 COL10A1
CLNDBN Metaphyseal chondrodysplasia, Schmid type
Reversed 1
HGVS NC_000006.11:g.116441383G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019030.23,


[PMID 12554676] Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage.