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rs1057519044

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519044(A;A)
Make rs1057519044(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position121517390
GeneFGFR2
is asnp
is mentioned by
dbSNPrs1057519044
dbSNP (old)rs1057519044
ClinGenrs1057519044
ebirs1057519044
HLIrs1057519044
Exacrs1057519044
Gnomadrs1057519044
Varsomers1057519044
Maprs1057519044
PheGenIrs1057519044
Biobankrs1057519044
1000 genomesrs1057519044
hgdprs1057519044
ensemblrs1057519044
gopubmedrs1057519044
geneviewrs1057519044
scholarrs1057519044
googlers1057519044
pharmgkbrs1057519044
gwascentralrs1057519044
openSNPrs1057519044
23andMers1057519044
23andMe allrs1057519044
SNPshotrs1057519044
SNPdbers1057519044
MSV3drs1057519044
GWAS Ctlgrs1057519044
Max Magnitude0
ClinVar
Risk rs1057519044(A;A)
Alt rs1057519044(A;A)
Reference Rs1057519044(G;G)
Significance Pathogenic
Disease Crouzon syndrome
Variation info
Gene FGFR2
CLNDBN Crouzon syndrome
Reversed 1
HGVS NC_000010.10:g.123276904C>T
CLNSRC
CLNACC RCV000415513.1,