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rs121918279

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918279(C;T)
Make rs121918279(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position44108226
GeneEXT2
is asnp
is mentioned by
dbSNPrs121918279
ebirs121918279
HLIrs121918279
Exacrs121918279
Varsomers121918279
Maprs121918279
PheGenIrs121918279
hapmaprs121918279
1000 genomesrs121918279
hgdprs121918279
ensemblrs121918279
gopubmedrs121918279
geneviewrs121918279
scholarrs121918279
googlers121918279
pharmgkbrs121918279
gwascentralrs121918279
openSNPrs121918279
23andMers121918279
23andMe allrs121918279
SNP Nexus

SNPshotrs121918279
SNPdbers121918279
MSV3drs121918279
GWAS Ctlgrs121918279
Max Magnitude0
OMIM608210
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121918279(T;T)
Alt rs121918279(T;T)
Reference rs121918279(C;C)
Significance Pathogenic
Disease Multiple exostoses type 2
Variation info
Gene EXT2
CLNDBN Multiple exostoses type 2
Reversed 0
HGVS NC_000011.9:g.44129776C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002576.3,