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rs200970763

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs200970763(C;T)
Make rs200970763(T;T)
ReferenceGRCh38 38.1/142
Chromosome16
Position88733731
GenePIEZO1, RP5-1142A6.2
is asnp
is mentioned by
dbSNPrs200970763
ebirs200970763
HLIrs200970763
Exacrs200970763
Varsomers200970763
Maprs200970763
PheGenIrs200970763
hapmaprs200970763
1000 genomesrs200970763
hgdprs200970763
ensemblrs200970763
gopubmedrs200970763
geneviewrs200970763
scholarrs200970763
googlers200970763
pharmgkbrs200970763
gwascentralrs200970763
openSNPrs200970763
23andMers200970763
23andMe allrs200970763
SNP Nexus

SNPshotrs200970763
SNPdbers200970763
MSV3drs200970763
GWAS Ctlgrs200970763
Max Magnitude0
ClinVar
Risk rs200970763(T;T)
Alt rs200970763(T;T)
Reference rs200970763(C;C)
Significance Pathogenic
Disease Xerocytosis
Variation info
Gene LOC100289580 PIEZO1
CLNDBN Xerocytosis
Reversed 0
HGVS NC_000016.9:g.88800139C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000049238.1,