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rs387906676

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906676(C;C)
Make rs387906676(C;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position121517394
GeneFGFR2
is asnp
is mentioned by
dbSNPrs387906676
ebirs387906676
HLIrs387906676
Exacrs387906676
Varsomers387906676
Maprs387906676
PheGenIrs387906676
hapmaprs387906676
1000 genomesrs387906676
hgdprs387906676
ensemblrs387906676
gopubmedrs387906676
geneviewrs387906676
scholarrs387906676
googlers387906676
pharmgkbrs387906676
gwascentralrs387906676
openSNPrs387906676
23andMers387906676
23andMe allrs387906676
SNP Nexus

SNPshotrs387906676
SNPdbers387906676
MSV3drs387906676
GWAS Ctlgrs387906676
Max Magnitude0
ClinVar
Risk rs387906676(A,C;A,C)
Alt rs387906676(A,C;A,C)
Reference rs387906676(G;G)
Significance Pathogenic
Disease Crouzon syndrome Variant of unknown significance
Variation info
Gene FGFR2
CLNDBN Crouzon syndrome Variant of unknown significance
Reversed 1
HGVS NC_000010.10:g.123276908C>G; NC_000010.10:g.123276908C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000022732.24, RCV000022733.2,