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rs587776990

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587776990(C;G)
ReferenceGRCh38 38.1/142
Chromosome16
Position88725505
GenePIEZO1
is asnp
is mentioned by
dbSNPrs587776990
dbSNP (classic)rs587776990
ClinGenrs587776990
ebirs587776990
HLIrs587776990
Exacrs587776990
Gnomadrs587776990
Varsomers587776990
LitVarrs587776990
Maprs587776990
PheGenIrs587776990
Biobankrs587776990
1000 genomesrs587776990
hgdprs587776990
ensemblrs587776990
geneviewrs587776990
scholarrs587776990
googlers587776990
pharmgkbrs587776990
gwascentralrs587776990
openSNPrs587776990
23andMers587776990
SNPshotrs587776990
SNPdbers587776990
MSV3drs587776990
GWAS Ctlgrs587776990
Max Magnitude0
ClinVar
Risk Rs587776990(C;C)
Alt Rs587776990(C;C)
Reference Rs587776990(G;G)
Significance Pathogenic
Disease Xerocytosis
Variation info
Gene PIEZO1
CLNDBN Xerocytosis
Reversed 1
HGVS NC_000016.9:g.88791913C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000049234.3,