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rs121918507

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918507(A;G)
Make rs121918507(G;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position121498591
GeneFGFR2
is asnp
is mentioned by
dbSNPrs121918507
ebirs121918507
HLIrs121918507
Exacrs121918507
Varsomers121918507
Maprs121918507
PheGenIrs121918507
hapmaprs121918507
1000 genomesrs121918507
hgdprs121918507
ensemblrs121918507
gopubmedrs121918507
geneviewrs121918507
scholarrs121918507
googlers121918507
pharmgkbrs121918507
gwascentralrs121918507
openSNPrs121918507
23andMers121918507
23andMe allrs121918507
SNP Nexus

SNPshotrs121918507
SNPdbers121918507
MSV3drs121918507
GWAS Ctlgrs121918507
Max Magnitude0
OMIM176943
Desc
Variant0034
Relatedalso
ClinVar
Risk rs121918507(G;G)
Alt rs121918507(G;G)
Reference rs121918507(A;A)
Significance Pathogenic
Disease Crouzon syndrome Scaphocephaly
Variation info
Gene FGFR2
CLNDBN Crouzon syndrome Scaphocephaly, maxillary retrusion, and mental retardation
Reversed 1
HGVS NC_000010.10:g.123258105T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000014220.25, RCV000014221.24,