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rs111033556

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033556(A;A)
Make rs111033556(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position116120284
GeneCOL10A1, NT5DC1
is asnp
is mentioned by
dbSNPrs111033556
ebirs111033556
HLIrs111033556
Exacrs111033556
Varsomers111033556
Maprs111033556
PheGenIrs111033556
hapmaprs111033556
1000 genomesrs111033556
hgdprs111033556
ensemblrs111033556
gopubmedrs111033556
geneviewrs111033556
scholarrs111033556
googlers111033556
pharmgkbrs111033556
gwascentralrs111033556
openSNPrs111033556
23andMers111033556
23andMe allrs111033556
SNP Nexus

SNPshotrs111033556
SNPdbers111033556
MSV3drs111033556
GWAS Ctlgrs111033556
Max Magnitude0
OMIM120110
Desc
Variant0019
Relatedalso
ClinVar
Risk rs111033556(A;A)
Alt rs111033556(A;A)
Reference rs111033556(G;G)
Significance Pathogenic
Disease Metaphyseal chondrodysplasia
Variation info
Gene NT5DC1 COL10A1
CLNDBN Metaphyseal chondrodysplasia, Schmid type
Reversed 1
HGVS NC_000006.11:g.116441447C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019034.28,


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