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rs121918488

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918488(C;C)
Make rs121918488(C;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position121517379
GeneFGFR2
is asnp
is mentioned by
dbSNPrs121918488
ebirs121918488
HLIrs121918488
Exacrs121918488
Varsomers121918488
Maprs121918488
PheGenIrs121918488
hapmaprs121918488
1000 genomesrs121918488
hgdprs121918488
ensemblrs121918488
gopubmedrs121918488
geneviewrs121918488
scholarrs121918488
googlers121918488
pharmgkbrs121918488
gwascentralrs121918488
openSNPrs121918488
23andMers121918488
23andMe allrs121918488
SNP Nexus

SNPshotrs121918488
SNPdbers121918488
MSV3drs121918488
GWAS Ctlgrs121918488
Max Magnitude0
OMIM176943
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121918488(A,C;A,C)
Alt rs121918488(A,C;A,C)
Reference rs121918488(T;T)
Significance Pathogenic
Disease Crouzon syndrome Pfeiffer syndrome Jackson-Weiss syndrome Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
Variation info
Gene FGFR2
CLNDBN Crouzon syndrome Pfeiffer syndrome Jackson-Weiss syndrome Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
Reversed 1
HGVS NC_000010.10:g.123276893A>G; NC_000010.10:g.123276893A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014177.23, RCV000014178.24, RCV000014179.23, RCV000014180.24, RCV000014181.26, RCV000014182.24, RCV000014183.18,