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rs1057519037

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GC;GC) 0 common in clinvar
Make rs1057519037(GC;TA)
Make rs1057519037(TA;TA)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position121520084
GeneFGFR2
is asnp
is mentioned by
dbSNPrs1057519037
dbSNP (classic)rs1057519037
ClinGenrs1057519037
ebirs1057519037
HLIrs1057519037
Exacrs1057519037
Gnomadrs1057519037
Varsomers1057519037
LitVarrs1057519037
Maprs1057519037
PheGenIrs1057519037
Biobankrs1057519037
1000 genomesrs1057519037
hgdprs1057519037
ensemblrs1057519037
geneviewrs1057519037
scholarrs1057519037
googlers1057519037
pharmgkbrs1057519037
gwascentralrs1057519037
openSNPrs1057519037
23andMers1057519037
23andMe allrs1057519037
SNPshotrs1057519037
SNPdbers1057519037
MSV3drs1057519037
GWAS Ctlgrs1057519037
Max Magnitude0
ClinVar
Risk rs1057519037(TA;TA)
Alt rs1057519037(TA;TA)
Reference Rs1057519037(GC;GC)
Significance Probable-Pathogenic
Disease Pfeiffer syndrome
Variation info
Gene FGFR2
CLNDBN Pfeiffer syndrome
Reversed 1
HGVS NC_000010.10:g.123279598_123279599delGCinsTA
CLNSRC
CLNACC RCV000415475.1,