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rs587776991

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587776991(A;A)
Make rs587776991(A;G)
ReferenceGRCh38 38.1/142
Chromosome16
Position88719665
GenePIEZO1
is asnp
is mentioned by
dbSNPrs587776991
dbSNP (classic)rs587776991
ClinGenrs587776991
ebirs587776991
HLIrs587776991
Exacrs587776991
Gnomadrs587776991
Varsomers587776991
LitVarrs587776991
Maprs587776991
PheGenIrs587776991
Biobankrs587776991
1000 genomesrs587776991
hgdprs587776991
ensemblrs587776991
geneviewrs587776991
scholarrs587776991
googlers587776991
pharmgkbrs587776991
gwascentralrs587776991
openSNPrs587776991
23andMers587776991
SNPshotrs587776991
SNPdbers587776991
MSV3drs587776991
GWAS Ctlgrs587776991
Max Magnitude0
ClinVar
Risk rs587776991(A;A)
Alt rs587776991(A;A)
Reference Rs587776991(G;G)
Significance Pathogenic
Disease Xerocytosis
Variation info
Gene PIEZO1
CLNDBN Xerocytosis
Reversed 0
HGVS NC_000016.9:g.88786073G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000049236.3,