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rs121918503

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(ACG;ACG) 0 common in clinvar
Make rs121918503(-;-)
Make rs121918503(-;GAC)
Make rs121918503(GAC;GAC)
ReferenceGRCh38 38.1/141
Chromosome10
Position121520099
GeneFGFR2
is asnp
is mentioned by
dbSNPrs121918503
ebirs121918503
HLIrs121918503
Exacrs121918503
Varsomers121918503
Maprs121918503
PheGenIrs121918503
hapmaprs121918503
1000 genomesrs121918503
hgdprs121918503
ensemblrs121918503
gopubmedrs121918503
geneviewrs121918503
scholarrs121918503
googlers121918503
pharmgkbrs121918503
gwascentralrs121918503
openSNPrs121918503
23andMers121918503
23andMe allrs121918503
SNP Nexus

SNPshotrs121918503
SNPdbers121918503
MSV3drs121918503
GWAS Ctlgrs121918503
Max Magnitude0
OMIM176943
Desc
Variant0027
Relatedalso
ClinVar
Risk rs121918503(;)
Alt rs121918503(;)
Reference rs121918503(ACG;ACG)
Significance Pathogenic
Disease Pfeiffer syndrome
Variation info
Gene FGFR2
CLNDBN Pfeiffer syndrome
Reversed 1
HGVS NC_000010.10:g.123279613_123279615delGTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000014211.17,