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rs869025597

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869025597(G;T)
Make rs869025597(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome16
Position88722285
GenePIEZO1
is asnp
is mentioned by
dbSNPrs869025597
dbSNP (classic)rs869025597
ClinGenrs869025597
ebirs869025597
HLIrs869025597
Exacrs869025597
Gnomadrs869025597
Varsomers869025597
LitVarrs869025597
Maprs869025597
PheGenIrs869025597
Biobankrs869025597
1000 genomesrs869025597
hgdprs869025597
ensemblrs869025597
geneviewrs869025597
scholarrs869025597
googlers869025597
pharmgkbrs869025597
gwascentralrs869025597
openSNPrs869025597
23andMers869025597
SNPshotrs869025597
SNPdbers869025597
MSV3drs869025597
GWAS Ctlgrs869025597
Max Magnitude0
ClinVar
Risk rs869025597(T;T)
Alt rs869025597(T;T)
Reference Rs869025597(G;G)
Significance Pathogenic
Disease Lymphedema
Variation info
Gene PIEZO1
CLNDBN Lymphedema, hereditary, III
Reversed 1
HGVS NC_000016.9:g.88788693C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000208750.2,