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rs121918498

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CG;CG) 0 common in clinvar
Make rs121918498(CG;TT)
Make rs121918498(TT;TT)
ReferenceGRCh38 38.1/141
Chromosome10
Position121520162
GeneFGFR2
is asnp
is mentioned by
dbSNPrs121918498
ebirs121918498
HLIrs121918498
Exacrs121918498
Varsomers121918498
Maprs121918498
PheGenIrs121918498
hapmaprs121918498
1000 genomesrs121918498
hgdprs121918498
ensemblrs121918498
gopubmedrs121918498
geneviewrs121918498
scholarrs121918498
googlers121918498
pharmgkbrs121918498
gwascentralrs121918498
openSNPrs121918498
23andMers121918498
23andMe allrs121918498
SNP Nexus

SNPshotrs121918498
SNPdbers121918498
MSV3drs121918498
GWAS Ctlgrs121918498
Max Magnitude0
OMIM176943
Desc
Variant0017
Relatedalso
ClinVar
Risk rs121918498(TT;TT)
Alt rs121918498(TT;TT)
Reference rs121918498(CG;CG)
Significance Pathogenic
Disease Acrocephalosyndactyly type I
Variation info
Gene FGFR2
CLNDBN Acrocephalosyndactyly type I
Reversed 1
HGVS NC_000010.10:g.123279676_123279677delCGinsAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000014201.24,