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rs1057519043

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519043(C;C)
Make rs1057519043(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position121517391
GeneFGFR2
is asnp
is mentioned by
dbSNPrs1057519043
dbSNP (old)rs1057519043
ClinGenrs1057519043
ebirs1057519043
HLIrs1057519043
Exacrs1057519043
Gnomadrs1057519043
Varsomers1057519043
LitVarrs1057519043
Maprs1057519043
PheGenIrs1057519043
Biobankrs1057519043
1000 genomesrs1057519043
hgdprs1057519043
ensemblrs1057519043
gopubmedrs1057519043
geneviewrs1057519043
scholarrs1057519043
googlers1057519043
pharmgkbrs1057519043
gwascentralrs1057519043
openSNPrs1057519043
23andMers1057519043
23andMe allrs1057519043
SNPshotrs1057519043
SNPdbers1057519043
MSV3drs1057519043
GWAS Ctlgrs1057519043
Max Magnitude0
ClinVar
Risk rs1057519043(C;C)
Alt rs1057519043(C;C)
Reference Rs1057519043(G;G)
Significance Pathogenic
Disease Crouzon syndrome
Variation info
Gene FGFR2
CLNDBN Crouzon syndrome
Reversed 1
HGVS NC_000010.10:g.123276905C>G
CLNSRC
CLNACC RCV000415494.1,