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rs1057519041

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057519041(A;G)
Make rs1057519041(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position121517465
GeneFGFR2
is asnp
is mentioned by
dbSNPrs1057519041
dbSNP (classic)rs1057519041
ClinGenrs1057519041
ebirs1057519041
HLIrs1057519041
Exacrs1057519041
Gnomadrs1057519041
Varsomers1057519041
LitVarrs1057519041
Maprs1057519041
PheGenIrs1057519041
Biobankrs1057519041
1000 genomesrs1057519041
hgdprs1057519041
ensemblrs1057519041
geneviewrs1057519041
scholarrs1057519041
googlers1057519041
pharmgkbrs1057519041
gwascentralrs1057519041
openSNPrs1057519041
23andMers1057519041
23andMe allrs1057519041
SNPshotrs1057519041
SNPdbers1057519041
MSV3drs1057519041
GWAS Ctlgrs1057519041
Max Magnitude0
ClinVar
Risk rs1057519041(G;G)
Alt rs1057519041(G;G)
Reference Rs1057519041(A;A)
Significance Pathogenic
Disease Pfeiffer syndrome
Variation info
Gene FGFR2
CLNDBN Pfeiffer syndrome
Reversed 1
HGVS NC_000010.10:g.123276979T>C
CLNSRC
CLNACC RCV000415479.1,