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rs878853138

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs878853138(C;T)
Make rs878853138(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome18
Position10696257
GenePIEZO2
is asnp
is mentioned by
dbSNPrs878853138
dbSNP (classic)rs878853138
ClinGenrs878853138
ebirs878853138
HLIrs878853138
Exacrs878853138
Gnomadrs878853138
Varsomers878853138
LitVarrs878853138
Maprs878853138
PheGenIrs878853138
Biobankrs878853138
1000 genomesrs878853138
hgdprs878853138
ensemblrs878853138
geneviewrs878853138
scholarrs878853138
googlers878853138
pharmgkbrs878853138
gwascentralrs878853138
openSNPrs878853138
23andMers878853138
SNPshotrs878853138
SNPdbers878853138
MSV3drs878853138
GWAS Ctlgrs878853138
Max Magnitude0
ClinVar
Risk rs878853138(T;T)
Alt rs878853138(T;T)
Reference Rs878853138(C;C)
Significance Pathogenic
Disease Oculomelic amyoplasia
Variation info
Gene PIEZO2
CLNDBN Oculomelic amyoplasia
Reversed 1
HGVS NC_000018.9:g.10696255G>A
CLNSRC
CLNACC RCV000224843.1,