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rs1057519042

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057519042(A;G)
Make rs1057519042(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position121517396
GeneFGFR2
is asnp
is mentioned by
dbSNPrs1057519042
dbSNP (old)rs1057519042
ClinGenrs1057519042
ebirs1057519042
HLIrs1057519042
Exacrs1057519042
Gnomadrs1057519042
Varsomers1057519042
LitVarrs1057519042
Maprs1057519042
PheGenIrs1057519042
Biobankrs1057519042
1000 genomesrs1057519042
hgdprs1057519042
ensemblrs1057519042
gopubmedrs1057519042
geneviewrs1057519042
scholarrs1057519042
googlers1057519042
pharmgkbrs1057519042
gwascentralrs1057519042
openSNPrs1057519042
23andMers1057519042
23andMe allrs1057519042
SNPshotrs1057519042
SNPdbers1057519042
MSV3drs1057519042
GWAS Ctlgrs1057519042
Max Magnitude0
ClinVar
Risk rs1057519042(G;G)
Alt rs1057519042(G;G)
Reference Rs1057519042(A;A)
Significance Pathogenic
Disease Crouzon syndrome
Variation info
Gene FGFR2
CLNDBN Crouzon syndrome
Reversed 1
HGVS NC_000010.10:g.123276910T>C
CLNSRC
CLNACC RCV000415483.1,