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rs121912890

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912890(A;A)
Make rs121912890(A;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position47974092
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs121912890
ebirs121912890
HLIrs121912890
Exacrs121912890
Varsomers121912890
Maprs121912890
PheGenIrs121912890
hapmaprs121912890
1000 genomesrs121912890
hgdprs121912890
ensemblrs121912890
gopubmedrs121912890
geneviewrs121912890
scholarrs121912890
googlers121912890
pharmgkbrs121912890
gwascentralrs121912890
openSNPrs121912890
23andMers121912890
23andMe allrs121912890
SNP Nexus

SNPshotrs121912890
SNPdbers121912890
MSV3drs121912890
GWAS Ctlgrs121912890
Max Magnitude0
OMIM120140
Desc
Variant0042
Relatedalso
ClinVar
Risk rs121912890(A;A)
Alt rs121912890(A;A)
Reference rs121912890(C;C)
Significance Pathogenic
Disease Spondyloperipheral dysplasia
Variation info
Gene COL2A1
CLNDBN Spondyloperipheral dysplasia
Reversed 1
HGVS NC_000012.11:g.48367875G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018934.27,