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rs121918497

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918497(A;C)
Make rs121918497(C;C)
ReferenceGRCh38 38.1/141
Chromosome10
Position121520052
GeneFGFR2
is asnp
is mentioned by
dbSNPrs121918497
ebirs121918497
HLIrs121918497
Exacrs121918497
Varsomers121918497
Maprs121918497
PheGenIrs121918497
hapmaprs121918497
1000 genomesrs121918497
hgdprs121918497
ensemblrs121918497
gopubmedrs121918497
geneviewrs121918497
scholarrs121918497
googlers121918497
pharmgkbrs121918497
gwascentralrs121918497
openSNPrs121918497
23andMers121918497
23andMe allrs121918497
SNP Nexus

SNPshotrs121918497
SNPdbers121918497
MSV3drs121918497
GWAS Ctlgrs121918497
Max Magnitude0
OMIM176943
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121918497(C;C)
Alt rs121918497(C;C)
Reference rs121918497(A;A)
Significance Pathogenic
Disease Crouzon syndrome Jackson-Weiss syndrome
Variation info
Gene FGFR2
CLNDBN Crouzon syndrome Jackson-Weiss syndrome
Reversed 1
HGVS NC_000010.10:g.123279566T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014196.17, RCV000014197.24,