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rs28938171

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28938171(A;A)
Make rs28938171(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position2831588
GeneSH3BP2
is asnp
is mentioned by
dbSNPrs28938171
dbSNP (classic)rs28938171
ClinGenrs28938171
ebirs28938171
HLIrs28938171
Exacrs28938171
Gnomadrs28938171
Varsomers28938171
LitVarrs28938171
Maprs28938171
PheGenIrs28938171
Biobankrs28938171
1000 genomesrs28938171
hgdprs28938171
ensemblrs28938171
geneviewrs28938171
scholarrs28938171
googlers28938171
pharmgkbrs28938171
gwascentralrs28938171
openSNPrs28938171
23andMers28938171
SNPshotrs28938171
SNPdbers28938171
MSV3drs28938171
GWAS Ctlgrs28938171
Max Magnitude0
OMIM602104
DescCHERUBISM
Variant0007
Relatedalso
ClinVar
Risk rs28938171(A;A)
Alt rs28938171(A;A)
Reference Rs28938171(G;G)
Significance Pathogenic
Disease Fibrous dysplasia of jaw
Variation info
Gene SH3BP2
CLNDBN Fibrous dysplasia of jaw
Reversed 0
HGVS NC_000004.11:g.2833315G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007989.2,