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

rs1057519045

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057519045(A;C)
Make rs1057519045(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position121498522
GeneFGFR2
is asnp
is mentioned by
dbSNPrs1057519045
dbSNP (old)rs1057519045
ClinGenrs1057519045
ebirs1057519045
HLIrs1057519045
Exacrs1057519045
Gnomadrs1057519045
Varsomers1057519045
LitVarrs1057519045
Maprs1057519045
PheGenIrs1057519045
Biobankrs1057519045
1000 genomesrs1057519045
hgdprs1057519045
ensemblrs1057519045
gopubmedrs1057519045
geneviewrs1057519045
scholarrs1057519045
googlers1057519045
pharmgkbrs1057519045
gwascentralrs1057519045
openSNPrs1057519045
23andMers1057519045
23andMe allrs1057519045
SNPshotrs1057519045
SNPdbers1057519045
MSV3drs1057519045
GWAS Ctlgrs1057519045
Max Magnitude0
ClinVar
Risk rs1057519045(C;C)
Alt rs1057519045(C;C)
Reference Rs1057519045(A;A)
Significance Probable-Pathogenic
Disease Crouzon syndrome Neoplasm of breast Nasopharyngeal Neoplasms Adenocarcinoma of lung Endometrial Endometrioid Adenocarcinoma Malignant neoplasm of body of uterus
Variation info
Gene FGFR2
CLNDBN Crouzon syndrome Neoplasm of breast Nasopharyngeal Neoplasms Adenocarcinoma of lung Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation Malignant neoplasm of body of uterus
Reversed 1
HGVS NC_000010.10:g.123258036T>G
CLNSRC
CLNACC RCV000415507.1, RCV000418082.1, RCV000425472.1, RCV000428300.1, RCV000432507.1, RCV000435736.1,