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rs121909146

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909146(C;T)
Make rs121909146(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position2831582
GeneSH3BP2
is asnp
is mentioned by
dbSNPrs121909146
dbSNP (classic)rs121909146
ClinGenrs121909146
ebirs121909146
HLIrs121909146
Exacrs121909146
Gnomadrs121909146
Varsomers121909146
LitVarrs121909146
Maprs121909146
PheGenIrs121909146
Biobankrs121909146
1000 genomesrs121909146
hgdprs121909146
ensemblrs121909146
geneviewrs121909146
scholarrs121909146
googlers121909146
pharmgkbrs121909146
gwascentralrs121909146
openSNPrs121909146
23andMers121909146
SNPshotrs121909146
SNPdbers121909146
MSV3drs121909146
GWAS Ctlgrs121909146
Merged fromRs121909147, Rs121909148
Max Magnitude0
OMIM602104
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121909146(A;A) rs121909146(G;G) rs121909146(T;T)
Alt rs121909146(A;A) rs121909146(G;G) rs121909146(T;T)
Reference Rs121909146(C;C)
Significance Pathogenic
Disease Fibrous dysplasia of jaw not provided
Variation info
Gene SH3BP2
CLNDBN Fibrous dysplasia of jaw not provided
Reversed 0
HGVS NC_000004.11:g.2833309C>A; NC_000004.11:g.2833309C>G; NC_000004.11:g.2833309C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007985.2, RCV000007984.3, RCV000486508.1, RCV000007983.2,