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rs121913478

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121913478(A;G)
Make rs121913478(G;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position121515280
GeneFGFR2
is asnp
is mentioned by
dbSNPrs121913478
dbSNP (classic)rs121913478
ClinGenrs121913478
ebirs121913478
HLIrs121913478
Exacrs121913478
Gnomadrs121913478
Varsomers121913478
LitVarrs121913478
Maprs121913478
PheGenIrs121913478
Biobankrs121913478
1000 genomesrs121913478
hgdprs121913478
ensemblrs121913478
geneviewrs121913478
scholarrs121913478
googlers121913478
pharmgkbrs121913478
gwascentralrs121913478
openSNPrs121913478
23andMers121913478
SNPshotrs121913478
SNPdbers121913478
MSV3drs121913478
GWAS Ctlgrs121913478
Max Magnitude0
OMIM176943
Desc
Variant0015
Relatedalso
ClinVar
Risk rs121913478(G;G)
Alt rs121913478(G;G)
Reference Rs121913478(A;A)
Significance Pathogenic
Disease Cutis Gyrata syndrome of Beare and Stevenson Endometrial carcinoma not provided Endometrial neoplasm
Variation info
Gene FGFR2
CLNDBN Cutis Gyrata syndrome of Beare and Stevenson Endometrial carcinoma not provided Endometrial neoplasm
Reversed 1
HGVS NC_000010.10:g.123274794T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014198.18, RCV000014199.5, RCV000224124.2, RCV000441051.1,