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rs587776989

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587776989(C;T)
Make rs587776989(T;T)
ReferenceGRCh38 38.1/142
Chromosome16
Position88720175
GenePIEZO1
is asnp
is mentioned by
dbSNPrs587776989
dbSNP (classic)rs587776989
ClinGenrs587776989
ebirs587776989
HLIrs587776989
Exacrs587776989
Gnomadrs587776989
Varsomers587776989
LitVarrs587776989
Maprs587776989
PheGenIrs587776989
Biobankrs587776989
1000 genomesrs587776989
hgdprs587776989
ensemblrs587776989
geneviewrs587776989
scholarrs587776989
googlers587776989
pharmgkbrs587776989
gwascentralrs587776989
openSNPrs587776989
23andMers587776989
SNPshotrs587776989
SNPdbers587776989
MSV3drs587776989
GWAS Ctlgrs587776989
Max Magnitude0
ClinVar
Risk Rs587776989(C;C) rs587776989(T;T)
Alt Rs587776989(C;C) rs587776989(T;T)
Reference Rs587776989(G;G)
Significance Pathogenic
Disease Xerocytosis not provided
Variation info
Gene PIEZO1
CLNDBN Xerocytosis not provided
Reversed 1
HGVS NC_000016.9:g.88786583C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000049233.3, RCV000224939.1,