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rs121918505

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918505(C;C)
Make rs121918505(C;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position121520119
GeneFGFR2
is asnp
is mentioned by
dbSNPrs121918505
dbSNP (classic)rs121918505
ClinGenrs121918505
ebirs121918505
HLIrs121918505
Exacrs121918505
Gnomadrs121918505
Varsomers121918505
LitVarrs121918505
Maprs121918505
PheGenIrs121918505
Biobankrs121918505
1000 genomesrs121918505
hgdprs121918505
ensemblrs121918505
geneviewrs121918505
scholarrs121918505
googlers121918505
pharmgkbrs121918505
gwascentralrs121918505
openSNPrs121918505
23andMers121918505
SNPshotrs121918505
SNPdbers121918505
MSV3drs121918505
GWAS Ctlgrs121918505
Max Magnitude0
OMIM176943
Desc
Variant0029
Relatedalso
ClinVar
Risk rs121918505(C;C)
Alt rs121918505(C;C)
Reference Rs121918505(T;T)
Significance Pathogenic
Disease Pfeiffer syndrome Neoplasm of stomach Crouzon syndrome not provided
Variation info
Gene FGFR2
CLNDBN Pfeiffer syndrome Neoplasm of stomach Crouzon syndrome not provided
Reversed 1
HGVS NC_000010.10:g.123279633A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014213.25, RCV000014214.5, RCV000408850.1, RCV000435703.1,