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rs387906677

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906677(G;G)
Make rs387906677(G;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position121515232
GeneFGFR2
is asnp
is mentioned by
dbSNPrs387906677
dbSNP (classic)rs387906677
ClinGenrs387906677
ebirs387906677
HLIrs387906677
Exacrs387906677
Gnomadrs387906677
Varsomers387906677
LitVarrs387906677
Maprs387906677
PheGenIrs387906677
Biobankrs387906677
1000 genomesrs387906677
hgdprs387906677
ensemblrs387906677
geneviewrs387906677
scholarrs387906677
googlers387906677
pharmgkbrs387906677
gwascentralrs387906677
openSNPrs387906677
23andMers387906677
SNPshotrs387906677
SNPdbers387906677
MSV3drs387906677
GWAS Ctlgrs387906677
Max Magnitude0
ClinVar
Risk rs387906677(G;G)
Alt rs387906677(G;G)
Reference Rs387906677(T;T)
Significance Pathogenic
Disease Bent bone dysplasia syndrome not provided
Variation info
Gene FGFR2
CLNDBN Bent bone dysplasia syndrome not provided
Reversed 1
HGVS NC_000010.10:g.123274746A>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000022734.26, RCV000493423.1,