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rs121918491

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918491(A;A)
Make rs121918491(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position121517371
GeneFGFR2
is asnp
is mentioned by
dbSNPrs121918491
ebirs121918491
HLIrs121918491
Exacrs121918491
Varsomers121918491
Maprs121918491
PheGenIrs121918491
hapmaprs121918491
1000 genomesrs121918491
hgdprs121918491
ensemblrs121918491
gopubmedrs121918491
geneviewrs121918491
scholarrs121918491
googlers121918491
pharmgkbrs121918491
gwascentralrs121918491
openSNPrs121918491
23andMers121918491
23andMe allrs121918491
SNP Nexus

SNPshotrs121918491
SNPdbers121918491
MSV3drs121918491
GWAS Ctlgrs121918491
Max Magnitude0
OMIM176943
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121918491(A;A)
Alt rs121918491(A;A)
Reference rs121918491(G;G)
Significance Pathogenic
Disease Crouzon syndrome Craniosynostosis Scaphocephaly and axenfeld-rieger anomaly
Variation info
Gene FGFR2
CLNDBN Crouzon syndrome Craniosynostosis, nonclassifiable autosomal dominant Scaphocephaly and axenfeld-rieger anomaly Craniosynostosis
Reversed 1
HGVS NC_000010.10:g.123276885C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014184.23, RCV000014185.17, RCV000014186.24, RCV000192353.1,