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rs1057519040

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057519040(A;G)
Make rs1057519040(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position121519995
GeneFGFR2
is asnp
is mentioned by
dbSNPrs1057519040
dbSNP (old)rs1057519040
ClinGenrs1057519040
ebirs1057519040
HLIrs1057519040
Exacrs1057519040
Gnomadrs1057519040
Varsomers1057519040
LitVarrs1057519040
Maprs1057519040
PheGenIrs1057519040
Biobankrs1057519040
1000 genomesrs1057519040
hgdprs1057519040
ensemblrs1057519040
gopubmedrs1057519040
geneviewrs1057519040
scholarrs1057519040
googlers1057519040
pharmgkbrs1057519040
gwascentralrs1057519040
openSNPrs1057519040
23andMers1057519040
23andMe allrs1057519040
SNPshotrs1057519040
SNPdbers1057519040
MSV3drs1057519040
GWAS Ctlgrs1057519040
Max Magnitude0
ClinVar
Risk rs1057519040(G;G)
Alt rs1057519040(G;G)
Reference Rs1057519040(A;A)
Significance Pathogenic
Disease Crouzon syndrome
Variation info
Gene FGFR2
CLNDBN Crouzon syndrome
Reversed 1
HGVS NC_000010.10:g.123279509T>C
CLNSRC
CLNACC RCV000415502.1,