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rs869025600

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869025600(A;A)
Make rs869025600(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome16
Position88735134
GeneLOC100289580, PIEZO1
is asnp
is mentioned by
dbSNPrs869025600
dbSNP (classic)rs869025600
ClinGenrs869025600
ebirs869025600
HLIrs869025600
Exacrs869025600
Gnomadrs869025600
Varsomers869025600
LitVarrs869025600
Maprs869025600
PheGenIrs869025600
Biobankrs869025600
1000 genomesrs869025600
hgdprs869025600
ensemblrs869025600
geneviewrs869025600
scholarrs869025600
googlers869025600
pharmgkbrs869025600
gwascentralrs869025600
openSNPrs869025600
23andMers869025600
SNPshotrs869025600
SNPdbers869025600
MSV3drs869025600
GWAS Ctlgrs869025600
Max Magnitude0
ClinVar
Risk rs869025600(A;A)
Alt rs869025600(A;A)
Reference Rs869025600(G;G)
Significance Pathogenic
Disease Lymphedema
Variation info
Gene LOC100289580 PIEZO1
CLNDBN Lymphedema, hereditary, III
Reversed 1
HGVS NC_000016.9:g.88801542C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000208762.2,