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rs281865420

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CGC;CGC) 0 common in clinvar
Make rs281865420(CGC;TCT)
Make rs281865420(TCT;TCT)
ReferenceGRCh38 38.1/141
Chromosome10
Position121520161
GeneFGFR2
is asnp
is mentioned by
dbSNPrs281865420
ebirs281865420
HLIrs281865420
Exacrs281865420
Varsomers281865420
Maprs281865420
PheGenIrs281865420
hapmaprs281865420
1000 genomesrs281865420
hgdprs281865420
ensemblrs281865420
gopubmedrs281865420
geneviewrs281865420
scholarrs281865420
googlers281865420
pharmgkbrs281865420
gwascentralrs281865420
openSNPrs281865420
23andMers281865420
23andMe allrs281865420
SNP Nexus

SNPshotrs281865420
SNPdbers281865420
MSV3drs281865420
GWAS Ctlgrs281865420
Max Magnitude0
ClinVar
Risk rs281865420(TCT;TCT)
Alt rs281865420(TCT;TCT)
Reference rs281865420(CGC;CGC)
Significance Pathogenic
Disease Pfeiffer syndrome variant
Variation info
Gene FGFR2
CLNDBN Pfeiffer syndrome variant
Reversed 1
HGVS NC_000010.10:g.123279675_123279677delGCGinsAGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000014202.23,