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rs121909148

From SNPedia

Merged intors121909146
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909148(A;A)
Make rs121909148(A;C)
ReferenceGRCh38 38.1/141
Chromosome4
Position2831582
GeneSH3BP2
is asnp
is mentioned by
dbSNPrs121909148
dbSNP (classic)rs121909148
ClinGenrs121909148
ebirs121909148
HLIrs121909148
Exacrs121909148
Gnomadrs121909148
Varsomers121909148
LitVarrs121909148
Maprs121909148
PheGenIrs121909148
Biobankrs121909148
1000 genomesrs121909148
hgdprs121909148
ensemblrs121909148
geneviewrs121909148
scholarrs121909148
googlers121909148
pharmgkbrs121909148
gwascentralrs121909148
openSNPrs121909148
23andMers121909148
SNPshotrs121909148
SNPdbers121909148
MSV3drs121909148
GWAS Ctlgrs121909148
StatusMerged into rs121909146
Max Magnitude0
OMIM602104
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121909148(A;A)
Alt rs121909148(A;A)
Reference Rs121909148(C;C)
Significance Pathogenic
Disease Fibrous dysplasia of jaw
Variation info
Gene SH3BP2
CLNDBN Fibrous dysplasia of jaw
Reversed 0
HGVS NC_000004.11:g.2833309C>A
CLNSRC OMIM Allelic Variant
CLNACC SCV000028190.1,