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rs387907372

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GCC;GCC) 0 common in clinvar
Make rs387907372(CTT;CTT)
Make rs387907372(CTT;GCC)
ReferenceGRCh38 38.1/141
Chromosome10
Position121520160
GeneFGFR2
is asnp
is mentioned by
dbSNPrs387907372
ebirs387907372
HLIrs387907372
Exacrs387907372
Varsomers387907372
Maprs387907372
PheGenIrs387907372
hapmaprs387907372
1000 genomesrs387907372
hgdprs387907372
ensemblrs387907372
gopubmedrs387907372
geneviewrs387907372
scholarrs387907372
googlers387907372
pharmgkbrs387907372
gwascentralrs387907372
openSNPrs387907372
23andMers387907372
23andMe allrs387907372
SNP Nexus

SNPshotrs387907372
SNPdbers387907372
MSV3drs387907372
GWAS Ctlgrs387907372
Max Magnitude0
ClinVar
Risk rs387907372(CTT;CTT)
Alt rs387907372(CTT;CTT)
Reference rs387907372(GCC;GCC)
Significance Pathogenic
Disease Acrocephalosyndactyly type I
Variation info
Gene FGFR2
CLNDBN Acrocephalosyndactyly type I
Reversed 1
HGVS NC_000010.10:g.123279674_123279676delGGCinsAAG
CLNSRC ClinVar
CLNACC RCV000049281.1,