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rs121913477

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913477(C;G)
Make rs121913477(G;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position121515289
GeneFGFR2
is asnp
is mentioned by
dbSNPrs121913477
dbSNP (classic)rs121913477
ClinGenrs121913477
ebirs121913477
HLIrs121913477
Exacrs121913477
Gnomadrs121913477
Varsomers121913477
LitVarrs121913477
Maprs121913477
PheGenIrs121913477
Biobankrs121913477
1000 genomesrs121913477
hgdprs121913477
ensemblrs121913477
geneviewrs121913477
scholarrs121913477
googlers121913477
pharmgkbrs121913477
gwascentralrs121913477
openSNPrs121913477
23andMers121913477
SNPshotrs121913477
SNPdbers121913477
MSV3drs121913477
GWAS Ctlgrs121913477
Max Magnitude0
OMIM176943
Desc
Variant0016
Relatedalso
ClinVar
Risk rs121913477(G;G)
Alt rs121913477(G;G)
Reference Rs121913477(C;C)
Significance Pathogenic
Disease Cutis Gyrata syndrome of Beare and Stevenson Endometrial neoplasm
Variation info
Gene FGFR2
CLNDBN Cutis Gyrata syndrome of Beare and Stevenson Endometrial neoplasm
Reversed 1
HGVS NC_000010.10:g.123274803G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014200.25, RCV000424237.1,