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rs111033543

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033543(C;G)
Make rs111033543(G;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position116120232
GeneCOL10A1, NT5DC1
is asnp
is mentioned by
dbSNPrs111033543
ebirs111033543
HLIrs111033543
Exacrs111033543
Varsomers111033543
Maprs111033543
PheGenIrs111033543
hapmaprs111033543
1000 genomesrs111033543
hgdprs111033543
ensemblrs111033543
gopubmedrs111033543
geneviewrs111033543
scholarrs111033543
googlers111033543
pharmgkbrs111033543
gwascentralrs111033543
openSNPrs111033543
23andMers111033543
23andMe allrs111033543
SNP Nexus

SNPshotrs111033543
SNPdbers111033543
MSV3drs111033543
GWAS Ctlgrs111033543
Max Magnitude0
OMIM120110
Desc
Variant0009
Relatedalso
ClinVar
Risk rs111033543(G;G)
Alt rs111033543(G;G)
Reference rs111033543(C;C)
Significance Pathogenic
Disease Metaphyseal chondrodysplasia
Variation info
Gene COL10A1 NT5DC1
CLNDBN Metaphyseal chondrodysplasia, Schmid type
Reversed 1
HGVS NC_000006.11:g.116441395G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000019024.23,