Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057519038

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057519038(A;G)
Make rs1057519038(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position121520076
GeneFGFR2
is asnp
is mentioned by
dbSNPrs1057519038
dbSNP (old)rs1057519038
ClinGenrs1057519038
ebirs1057519038
HLIrs1057519038
Exacrs1057519038
Gnomadrs1057519038
Varsomers1057519038
Maprs1057519038
PheGenIrs1057519038
Biobankrs1057519038
1000 genomesrs1057519038
hgdprs1057519038
ensemblrs1057519038
gopubmedrs1057519038
geneviewrs1057519038
scholarrs1057519038
googlers1057519038
pharmgkbrs1057519038
gwascentralrs1057519038
openSNPrs1057519038
23andMers1057519038
23andMe allrs1057519038
SNPshotrs1057519038
SNPdbers1057519038
MSV3drs1057519038
GWAS Ctlgrs1057519038
Max Magnitude0
ClinVar
Risk rs1057519038(G;G)
Alt rs1057519038(G;G)
Reference Rs1057519038(A;A)
Significance Probable-Pathogenic
Disease Crouzon syndrome
Variation info
Gene FGFR2
CLNDBN Crouzon syndrome
Reversed 1
HGVS NC_000010.10:g.123279590T>C
CLNSRC
CLNACC RCV000415488.1,