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rs121918502

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918502(C;G)
Make rs121918502(G;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position121517351
GeneFGFR2
is asnp
is mentioned by
dbSNPrs121918502
ebirs121918502
HLIrs121918502
Exacrs121918502
Varsomers121918502
Maprs121918502
PheGenIrs121918502
hapmaprs121918502
1000 genomesrs121918502
hgdprs121918502
ensemblrs121918502
gopubmedrs121918502
geneviewrs121918502
scholarrs121918502
googlers121918502
pharmgkbrs121918502
gwascentralrs121918502
openSNPrs121918502
23andMers121918502
23andMe allrs121918502
SNP Nexus

SNPshotrs121918502
SNPdbers121918502
MSV3drs121918502
GWAS Ctlgrs121918502
Max Magnitude0
OMIM176943
Desc
Variant0024
Relatedalso
ClinVar
Risk rs121918502(G;G)
Alt rs121918502(G;G)
Reference rs121918502(C;C)
Significance Pathogenic
Disease Pfeiffer syndrome Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
Variation info
Gene FGFR2
CLNDBN Pfeiffer syndrome, type III Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
Reversed 1
HGVS NC_000010.10:g.123276865G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000014208.24, RCV000014209.17,