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rs111033555

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111033555(C;C)
Make rs111033555(C;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position116120318
GeneCOL10A1, NT5DC1
is asnp
is mentioned by
dbSNPrs111033555
ebirs111033555
HLIrs111033555
Exacrs111033555
Varsomers111033555
Maprs111033555
PheGenIrs111033555
hapmaprs111033555
1000 genomesrs111033555
hgdprs111033555
ensemblrs111033555
gopubmedrs111033555
geneviewrs111033555
scholarrs111033555
googlers111033555
pharmgkbrs111033555
gwascentralrs111033555
openSNPrs111033555
23andMers111033555
23andMe allrs111033555
SNP Nexus

SNPshotrs111033555
SNPdbers111033555
MSV3drs111033555
GWAS Ctlgrs111033555
Max Magnitude0
OMIM120110
Desc
Variant0018
Relatedalso
ClinVar
Risk rs111033555(C;C)
Alt rs111033555(C;C)
Reference rs111033555(T;T)
Significance Pathogenic
Disease Metaphyseal chondrodysplasia
Variation info
Gene NT5DC1 COL10A1
CLNDBN Metaphyseal chondrodysplasia, Schmid type
Reversed 1
HGVS NC_000006.11:g.116441481A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019033.24,