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

rs121912888

来自SNPedia
跳转至:导航搜索

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912888(A;A)
Make rs121912888(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position47985946
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs121912888
ebirs121912888
HLIrs121912888
Exacrs121912888
Varsomers121912888
Maprs121912888
PheGenIrs121912888
hapmaprs121912888
1000 genomesrs121912888
hgdprs121912888
ensemblrs121912888
gopubmedrs121912888
geneviewrs121912888
scholarrs121912888
googlers121912888
pharmgkbrs121912888
gwascentralrs121912888
openSNPrs121912888
23andMers121912888
23andMe allrs121912888
SNP Nexus

SNPshotrs121912888
SNPdbers121912888
MSV3drs121912888
GWAS Ctlgrs121912888
Max Magnitude0
OMIM120140
Desc
Variant0038
Relatedalso
ClinVar
Risk rs121912888(A;A)
Alt rs121912888(A;A)
Reference rs121912888(G;G)
Significance Pathogenic
Disease Achondrogenesis
Variation info
Gene COL2A1
CLNDBN Achondrogenesis, type II
Reversed 1
HGVS NC_000012.11:g.48379729C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000022481.27,