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rs879253719

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs879253719(A;A)
Make rs879253719(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome10
Position121517464
GeneFGFR2
is asnp
is mentioned by
dbSNPrs879253719
ebirs879253719
HLIrs879253719
Exacrs879253719
Varsomers879253719
Maprs879253719
PheGenIrs879253719
hapmaprs879253719
1000 genomesrs879253719
hgdprs879253719
ensemblrs879253719
gopubmedrs879253719
geneviewrs879253719
scholarrs879253719
googlers879253719
pharmgkbrs879253719
gwascentralrs879253719
openSNPrs879253719
23andMers879253719
23andMe allrs879253719
SNP Nexus

SNPshotrs879253719
SNPdbers879253719
MSV3drs879253719
GWAS Ctlgrs879253719
Max Magnitude0
ClinVar
Risk rs879253719(A;A)
Alt rs879253719(A;A)
Reference rs879253719(G;G)
Significance Pathogenic
Disease Pfeiffer syndrome
Variation info
Gene FGFR2
CLNDBN Pfeiffer syndrome
Reversed 1
HGVS NC_000010.10:g.123276978C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014215.23,