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rs878853139

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs878853139(C;T)
Make rs878853139(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome18
Position10696263
GenePIEZO2
is asnp
is mentioned by
dbSNPrs878853139
dbSNP (classic)rs878853139
ClinGenrs878853139
ebirs878853139
HLIrs878853139
Exacrs878853139
Gnomadrs878853139
Varsomers878853139
LitVarrs878853139
Maprs878853139
PheGenIrs878853139
Biobankrs878853139
1000 genomesrs878853139
hgdprs878853139
ensemblrs878853139
geneviewrs878853139
scholarrs878853139
googlers878853139
pharmgkbrs878853139
gwascentralrs878853139
openSNPrs878853139
23andMers878853139
SNPshotrs878853139
SNPdbers878853139
MSV3drs878853139
GWAS Ctlgrs878853139
Max Magnitude0
ClinVar
Risk rs878853139(T;T)
Alt rs878853139(T;T)
Reference Rs878853139(C;C)
Significance Pathogenic
Disease Oculomelic amyoplasia
Variation info
Gene PIEZO2
CLNDBN Oculomelic amyoplasia
Reversed 1
HGVS NC_000018.9:g.10696261G>A
CLNSRC
CLNACC RCV000224177.1,