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rs878853140

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs878853140(C;C)
Make rs878853140(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome18
Position10762977
GenePIEZO2
is asnp
is mentioned by
dbSNPrs878853140
dbSNP (classic)rs878853140
ClinGenrs878853140
ebirs878853140
HLIrs878853140
Exacrs878853140
Gnomadrs878853140
Varsomers878853140
LitVarrs878853140
Maprs878853140
PheGenIrs878853140
Biobankrs878853140
1000 genomesrs878853140
hgdprs878853140
ensemblrs878853140
geneviewrs878853140
scholarrs878853140
googlers878853140
pharmgkbrs878853140
gwascentralrs878853140
openSNPrs878853140
23andMers878853140
SNPshotrs878853140
SNPdbers878853140
MSV3drs878853140
GWAS Ctlgrs878853140
Max Magnitude0
ClinVar
Risk rs878853140(C;C)
Alt rs878853140(C;C)
Reference Rs878853140(T;T)
Significance Pathogenic
Disease Oculomelic amyoplasia
Variation info
Gene PIEZO2
CLNDBN Oculomelic amyoplasia
Reversed 1
HGVS NC_000018.9:g.10762975A>G
CLNSRC
CLNACC RCV000224516.1,