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rs121918506

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918506(A;C)
Make rs121918506(C;C)
ReferenceGRCh38 38.1/141
Chromosome10
Position121496701
GeneFGFR2
is asnp
is mentioned by
dbSNPrs121918506
ebirs121918506
HLIrs121918506
Exacrs121918506
Varsomers121918506
Maprs121918506
PheGenIrs121918506
hapmaprs121918506
1000 genomesrs121918506
hgdprs121918506
ensemblrs121918506
gopubmedrs121918506
geneviewrs121918506
scholarrs121918506
googlers121918506
pharmgkbrs121918506
gwascentralrs121918506
openSNPrs121918506
23andMers121918506
23andMe allrs121918506
SNP Nexus

SNPshotrs121918506
SNPdbers121918506
MSV3drs121918506
GWAS Ctlgrs121918506
Max Magnitude0
OMIM176943
Desc
Variant0033
Relatedalso
ClinVar
Risk rs121918506(C;C)
Alt rs121918506(C;C)
Reference rs121918506(A;A)
Significance Pathogenic
Disease Pfeiffer syndrome
Variation info
Gene FGFR2
CLNDBN Pfeiffer syndrome
Reversed 1
HGVS NC_000010.10:g.123256215T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014219.25,