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rs111033552

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111033552(C;C)
Make rs111033552(C;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position116120105
GeneCOL10A1, NT5DC1
is asnp
is mentioned by
dbSNPrs111033552
ebirs111033552
HLIrs111033552
Exacrs111033552
Varsomers111033552
Maprs111033552
PheGenIrs111033552
hapmaprs111033552
1000 genomesrs111033552
hgdprs111033552
ensemblrs111033552
gopubmedrs111033552
geneviewrs111033552
scholarrs111033552
googlers111033552
pharmgkbrs111033552
gwascentralrs111033552
openSNPrs111033552
23andMers111033552
23andMe allrs111033552
SNP Nexus

SNPshotrs111033552
SNPdbers111033552
MSV3drs111033552
GWAS Ctlgrs111033552
Max Magnitude0
OMIM120110
Desc
Variant0014
Relatedalso
ClinVar
Risk rs111033552(C;C)
Alt rs111033552(C;C)
Reference rs111033552(T;T)
Significance Pathogenic
Disease Metaphyseal chondrodysplasia
Variation info
Gene NT5DC1 COL10A1
CLNDBN Metaphyseal chondrodysplasia, Schmid type
Reversed 1
HGVS NC_000006.11:g.116441268A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019029.27,