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rs111033547

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033547(A;A)
Make rs111033547(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position116120163
GeneCOL10A1, NT5DC1
is asnp
is mentioned by
dbSNPrs111033547
ebirs111033547
HLIrs111033547
Exacrs111033547
Varsomers111033547
Maprs111033547
PheGenIrs111033547
hapmaprs111033547
1000 genomesrs111033547
hgdprs111033547
ensemblrs111033547
gopubmedrs111033547
geneviewrs111033547
scholarrs111033547
googlers111033547
pharmgkbrs111033547
gwascentralrs111033547
openSNPrs111033547
23andMers111033547
23andMe allrs111033547
SNP Nexus

SNPshotrs111033547
SNPdbers111033547
MSV3drs111033547
GWAS Ctlgrs111033547
Max Magnitude0
OMIM120110
Desc
Variant0010
Relatedalso
ClinVar
Risk rs111033547(A;A)
Alt rs111033547(A;A)
Reference rs111033547(G;G)
Significance Pathogenic
Disease Metaphyseal chondrodysplasia
Variation info
Gene NT5DC1 COL10A1
CLNDBN Metaphyseal chondrodysplasia, Schmid type
Reversed 1
HGVS NC_000006.11:g.116441326C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019025.27,