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rs1057519039

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519039(C;C)
Make rs1057519039(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position121520049
GeneFGFR2
is asnp
is mentioned by
dbSNPrs1057519039
dbSNP (old)rs1057519039
ClinGenrs1057519039
ebirs1057519039
HLIrs1057519039
Exacrs1057519039
Gnomadrs1057519039
Varsomers1057519039
Maprs1057519039
PheGenIrs1057519039
Biobankrs1057519039
1000 genomesrs1057519039
hgdprs1057519039
ensemblrs1057519039
gopubmedrs1057519039
geneviewrs1057519039
scholarrs1057519039
googlers1057519039
pharmgkbrs1057519039
gwascentralrs1057519039
openSNPrs1057519039
23andMers1057519039
23andMe allrs1057519039
SNPshotrs1057519039
SNPdbers1057519039
MSV3drs1057519039
GWAS Ctlgrs1057519039
Max Magnitude0
ClinVar
Risk rs1057519039(C;C)
Alt rs1057519039(C;C)
Reference Rs1057519039(G;G)
Significance Pathogenic
Disease Crouzon syndrome
Variation info
Gene FGFR2
CLNDBN Crouzon syndrome
Reversed 1
HGVS NC_000010.10:g.123279563C>G
CLNSRC
CLNACC RCV000415506.1,