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rs121918280

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918280(A;A)
Make rs121918280(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position44114237
GeneEXT2
is asnp
is mentioned by
dbSNPrs121918280
dbSNP (old)rs121918280
ClinGenrs121918280
ebirs121918280
HLIrs121918280
Exacrs121918280
Varsomers121918280
Maprs121918280
PheGenIrs121918280
Biobankrs121918280
1000 genomesrs121918280
hgdprs121918280
ensemblrs121918280
gopubmedrs121918280
geneviewrs121918280
scholarrs121918280
googlers121918280
pharmgkbrs121918280
gwascentralrs121918280
openSNPrs121918280
23andMers121918280
23andMe allrs121918280
SNP Nexus

SNPshotrs121918280
SNPdbers121918280
MSV3drs121918280
GWAS Ctlgrs121918280
Max Magnitude0
OMIM608210
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121918280(A;A)
Alt rs121918280(A;A)
Reference Rs121918280(G;G)
Significance Pathogenic
Disease Multiple exostoses type 2
Variation info
Gene EXT2
CLNDBN Multiple exostoses type 2
Reversed 0
HGVS NC_000011.9:g.44135787G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002578.2,