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rs879253718

From SNPedia

Orientationminus
Geno Mag Summary
(AGTGGT;AGTGGT) 0 common in clinvar
Make rs879253718(-;-)
Make rs879253718(-;AGTGGT)
ReferenceGRCh38.p2 38.2/147
Chromosome10
Position121520109
GeneFGFR2
is asnp
is mentioned by
dbSNPrs879253718
ebirs879253718
HLIrs879253718
Exacrs879253718
Varsomers879253718
Maprs879253718
PheGenIrs879253718
hapmaprs879253718
1000 genomesrs879253718
hgdprs879253718
ensemblrs879253718
gopubmedrs879253718
geneviewrs879253718
scholarrs879253718
googlers879253718
pharmgkbrs879253718
gwascentralrs879253718
openSNPrs879253718
23andMers879253718
23andMe allrs879253718
SNP Nexus

SNPshotrs879253718
SNPdbers879253718
MSV3drs879253718
GWAS Ctlgrs879253718
Max Magnitude0
ClinVar
Risk rs879253718(;)
Alt rs879253718(;)
Reference rs879253718(AGTGGT;AGTGGT)
Significance Pathogenic
Disease Saethre-Chotzen syndrome
Variation info
Gene FGFR2
CLNDBN Saethre-Chotzen syndrome
Reversed 1
HGVS NC_000010.10:g.123279623_123279628delACCACT
CLNSRC OMIM Allelic Variant
CLNACC RCV000014207.25,