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rs878853136

From SNPedia

Merged intors587777077
Orientationminus
Stabilizedminus
Geno Mag Summary
(AGA;AGA) 0 common in clinvar
Make rs878853136(-;-)
Make rs878853136(-;AGA)
ReferenceGRCh38.p2 38.2/147
Chromosome18
Position10671603
GenePIEZO2
is asnp
is mentioned by
dbSNPrs878853136
dbSNP (classic)rs878853136
ClinGenrs878853136
ebirs878853136
HLIrs878853136
Exacrs878853136
Gnomadrs878853136
Varsomers878853136
LitVarrs878853136
Maprs878853136
PheGenIrs878853136
Biobankrs878853136
1000 genomesrs878853136
hgdprs878853136
ensemblrs878853136
geneviewrs878853136
scholarrs878853136
googlers878853136
pharmgkbrs878853136
gwascentralrs878853136
openSNPrs878853136
23andMers878853136
SNPshotrs878853136
SNPdbers878853136
MSV3drs878853136
GWAS Ctlgrs878853136
StatusMerged into rs587777077
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs878853136(AGA;AGA)
Significance Pathogenic
Disease Oculomelic amyoplasia
Variation info
Gene PIEZO2
CLNDBN Oculomelic amyoplasia
Reversed 1
HGVS NC_000018.9:g.10671600_10671602delTCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000224433.3,