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rs1057519047

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057519047(A;G)
Make rs1057519047(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position121488055
GeneFGFR2
is asnp
is mentioned by
dbSNPrs1057519047
dbSNP (old)rs1057519047
ClinGenrs1057519047
ebirs1057519047
HLIrs1057519047
Exacrs1057519047
Gnomadrs1057519047
Varsomers1057519047
Maprs1057519047
PheGenIrs1057519047
Biobankrs1057519047
1000 genomesrs1057519047
hgdprs1057519047
ensemblrs1057519047
gopubmedrs1057519047
geneviewrs1057519047
scholarrs1057519047
googlers1057519047
pharmgkbrs1057519047
gwascentralrs1057519047
openSNPrs1057519047
23andMers1057519047
23andMe allrs1057519047
SNPshotrs1057519047
SNPdbers1057519047
MSV3drs1057519047
GWAS Ctlgrs1057519047
Max Magnitude0
ClinVar
Risk rs1057519047(G;G)
Alt rs1057519047(G;G)
Reference Rs1057519047(A;A)
Significance Probable-Pathogenic
Disease Pfeiffer syndrome
Variation info
Gene FGFR2
CLNDBN Pfeiffer syndrome
Reversed 1
HGVS NC_000010.10:g.123247569T>C
CLNSRC
CLNACC RCV000415480.1,