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rs869025596

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869025596(G;T)
Make rs869025596(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome16
Position88733972
GeneLOC100289580, PIEZO1
is asnp
is mentioned by
dbSNPrs869025596
dbSNP (classic)rs869025596
ClinGenrs869025596
ebirs869025596
HLIrs869025596
Exacrs869025596
Gnomadrs869025596
Varsomers869025596
LitVarrs869025596
Maprs869025596
PheGenIrs869025596
Biobankrs869025596
1000 genomesrs869025596
hgdprs869025596
ensemblrs869025596
geneviewrs869025596
scholarrs869025596
googlers869025596
pharmgkbrs869025596
gwascentralrs869025596
openSNPrs869025596
23andMers869025596
SNPshotrs869025596
SNPdbers869025596
MSV3drs869025596
GWAS Ctlgrs869025596
Max Magnitude0
ClinVar
Risk rs869025596(T;T)
Alt rs869025596(T;T)
Reference Rs869025596(G;G)
Significance Pathogenic
Disease Lymphedema
Variation info
Gene LOC100289580 PIEZO1
CLNDBN Lymphedema, hereditary, III
Reversed 1
HGVS NC_000016.9:g.88800380C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000208769.2,