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rs111033549

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111033549(C;C)
Make rs111033549(C;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position116120165
GeneCOL10A1, NT5DC1
is asnp
is mentioned by
dbSNPrs111033549
ebirs111033549
HLIrs111033549
Exacrs111033549
Varsomers111033549
Maprs111033549
PheGenIrs111033549
hapmaprs111033549
1000 genomesrs111033549
hgdprs111033549
ensemblrs111033549
gopubmedrs111033549
geneviewrs111033549
scholarrs111033549
googlers111033549
pharmgkbrs111033549
gwascentralrs111033549
openSNPrs111033549
23andMers111033549
23andMe allrs111033549
SNP Nexus

SNPshotrs111033549
SNPdbers111033549
MSV3drs111033549
GWAS Ctlgrs111033549
Max Magnitude0
OMIM120110
Desc
Variant0011
Relatedalso
ClinVar
Risk rs111033549(C;C)
Alt rs111033549(C;C)
Reference rs111033549(T;T)
Significance Pathogenic
Disease Metaphyseal chondrodysplasia
Variation info
Gene COL10A1 NT5DC1
CLNDBN Metaphyseal chondrodysplasia, Schmid type
Reversed 1
HGVS NC_000006.11:g.116441328A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019026.27,


[PMID 8554571] A novel mutation substituting tryptophan with arginine in the carboxyl-terminal, non-collagenous domain of collagen X in a case of Schmid metaphyseal chondrodysplasia.