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rs878853137

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs878853137(C;T)
Make rs878853137(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome18
Position10689746
GenePIEZO2
is asnp
is mentioned by
dbSNPrs878853137
dbSNP (classic)rs878853137
ClinGenrs878853137
ebirs878853137
HLIrs878853137
Exacrs878853137
Gnomadrs878853137
Varsomers878853137
LitVarrs878853137
Maprs878853137
PheGenIrs878853137
Biobankrs878853137
1000 genomesrs878853137
hgdprs878853137
ensemblrs878853137
geneviewrs878853137
scholarrs878853137
googlers878853137
pharmgkbrs878853137
gwascentralrs878853137
openSNPrs878853137
23andMers878853137
SNPshotrs878853137
SNPdbers878853137
MSV3drs878853137
GWAS Ctlgrs878853137
Max Magnitude0
ClinVar
Risk rs878853137(T;T)
Alt rs878853137(T;T)
Reference Rs878853137(C;C)
Significance Pathogenic
Disease Oculomelic amyoplasia
Variation info
Gene PIEZO2
CLNDBN Oculomelic amyoplasia
Reversed 1
HGVS NC_000018.9:g.10689744G>A
CLNSRC
CLNACC RCV000224492.1,