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rs1057519046

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs1057519046(AA;CT)
Make rs1057519046(CT;CT)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position121498521
GeneFGFR2
is asnp
is mentioned by
dbSNPrs1057519046
dbSNP (old)rs1057519046
ClinGenrs1057519046
ebirs1057519046
HLIrs1057519046
Exacrs1057519046
Gnomadrs1057519046
Varsomers1057519046
Maprs1057519046
PheGenIrs1057519046
Biobankrs1057519046
1000 genomesrs1057519046
hgdprs1057519046
ensemblrs1057519046
gopubmedrs1057519046
geneviewrs1057519046
scholarrs1057519046
googlers1057519046
pharmgkbrs1057519046
gwascentralrs1057519046
openSNPrs1057519046
23andMers1057519046
23andMe allrs1057519046
SNPshotrs1057519046
SNPdbers1057519046
MSV3drs1057519046
GWAS Ctlgrs1057519046
Max Magnitude0
ClinVar
Risk rs1057519046(CT;CT)
Alt rs1057519046(CT;CT)
Reference Rs1057519046(AA;AA)
Significance Probable-Pathogenic
Disease Craniosynostosis
Variation info
Gene FGFR2
CLNDBN Craniosynostosis, nonspecific
Reversed 1
HGVS NC_000010.10:g.123258035_123258036delTTinsAG
CLNSRC
CLNACC RCV000415476.1,