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rs121912889

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121912889(A;G)
Make rs121912889(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position47974234
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs121912889
ebirs121912889
HLIrs121912889
Exacrs121912889
Varsomers121912889
Maprs121912889
PheGenIrs121912889
hapmaprs121912889
1000 genomesrs121912889
hgdprs121912889
ensemblrs121912889
gopubmedrs121912889
geneviewrs121912889
scholarrs121912889
googlers121912889
pharmgkbrs121912889
gwascentralrs121912889
openSNPrs121912889
23andMers121912889
23andMe allrs121912889
SNP Nexus

SNPshotrs121912889
SNPdbers121912889
MSV3drs121912889
GWAS Ctlgrs121912889
Max Magnitude0
OMIM120140
Desc
Variant0039
Relatedalso
ClinVar
Risk rs121912889(G;G)
Alt rs121912889(G;G)
Reference rs121912889(A;A)
Significance Pathogenic
Disease Platyspondylic lethal skeletal dysplasia Torrance type Spondyloperipheral dysplasia
Variation info
Gene COL2A1
CLNDBN Platyspondylic lethal skeletal dysplasia Torrance type Spondyloperipheral dysplasia
Reversed 1
HGVS NC_000012.11:g.48368017T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000018931.27, RCV000022482.27,