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rs121918499

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918499(C;C)
Make rs121918499(C;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position121520048
GeneFGFR2
is asnp
is mentioned by
dbSNPrs121918499
ebirs121918499
HLIrs121918499
Exacrs121918499
Varsomers121918499
Maprs121918499
PheGenIrs121918499
hapmaprs121918499
1000 genomesrs121918499
hgdprs121918499
ensemblrs121918499
gopubmedrs121918499
geneviewrs121918499
scholarrs121918499
googlers121918499
pharmgkbrs121918499
gwascentralrs121918499
openSNPrs121918499
23andMers121918499
23andMe allrs121918499
SNP Nexus

SNPshotrs121918499
SNPdbers121918499
MSV3drs121918499
GWAS Ctlgrs121918499
Max Magnitude0
OMIM176943
Desc
Variant0019
Relatedalso
ClinVar
Risk rs121918499(C,T;C,T)
Alt rs121918499(C,T;C,T)
Reference rs121918499(G;G)
Significance Pathogenic
Disease Pfeiffer syndrome Craniofacial-skeletal-dermatologic dysplasia
Variation info
Gene FGFR2
CLNDBN Pfeiffer syndrome Craniofacial-skeletal-dermatologic dysplasia
Reversed 1
HGVS NC_000010.10:g.123279562C>A; NC_000010.10:g.123279562C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014217.24, RCV000014218.24, RCV000014203.25,