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rs1057520044

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057520044(A;G)
Make rs1057520044(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position121498597
GeneFGFR2
is asnp
is mentioned by
dbSNPrs1057520044
dbSNP (old)rs1057520044
ClinGenrs1057520044
ebirs1057520044
HLIrs1057520044
Exacrs1057520044
Gnomadrs1057520044
Varsomers1057520044
LitVarrs1057520044
Maprs1057520044
PheGenIrs1057520044
Biobankrs1057520044
1000 genomesrs1057520044
hgdprs1057520044
ensemblrs1057520044
gopubmedrs1057520044
geneviewrs1057520044
scholarrs1057520044
googlers1057520044
pharmgkbrs1057520044
gwascentralrs1057520044
openSNPrs1057520044
23andMers1057520044
23andMe allrs1057520044
SNPshotrs1057520044
SNPdbers1057520044
MSV3drs1057520044
GWAS Ctlgrs1057520044
Max Magnitude0
ClinVar
Risk rs1057520044(G;G)
Alt rs1057520044(G;G)
Reference Rs1057520044(A;A)
Significance Probable-Pathogenic
Disease Craniosynostosis syndrome
Variation info
Gene FGFR2
CLNDBN Craniosynostosis syndrome
Reversed 1
HGVS NC_000010.10:g.123258111T>C
CLNSRC
CLNACC RCV000424161.1,