Have questions? Visit https://www.reddit.com/r/SNPedia

rs121912878

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912878(A;A)
Make rs121912878(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position47978389
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs121912878
ebirs121912878
HLIrs121912878
Exacrs121912878
Varsomers121912878
Maprs121912878
PheGenIrs121912878
hapmaprs121912878
1000 genomesrs121912878
hgdprs121912878
ensemblrs121912878
gopubmedrs121912878
geneviewrs121912878
scholarrs121912878
googlers121912878
pharmgkbrs121912878
gwascentralrs121912878
openSNPrs121912878
23andMers121912878
23andMe allrs121912878
SNP Nexus

SNPshotrs121912878
SNPdbers121912878
MSV3drs121912878
GWAS Ctlgrs121912878
Max Magnitude0
OMIM120140
Desc
Variant0021
Relatedalso
ClinVar
Risk rs121912878(A;A)
Alt rs121912878(A;A)
Reference rs121912878(G;G)
Significance Pathogenic
Disease Achondrogenesis
Variation info
Gene COL2A1
CLNDBN Achondrogenesis, type II
Reversed 1
HGVS NC_000012.11:g.48372172C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018915.23,