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rs202103485

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs202103485(C;T)
Make rs202103485(T;T)
ReferenceGRCh38 38.1/142
Chromosome16
Position88733652
GenePIEZO1, RP5-1142A6.2
is asnp
is mentioned by
dbSNPrs202103485
ebirs202103485
HLIrs202103485
Exacrs202103485
Varsomers202103485
Maprs202103485
PheGenIrs202103485
hapmaprs202103485
1000 genomesrs202103485
hgdprs202103485
ensemblrs202103485
gopubmedrs202103485
geneviewrs202103485
scholarrs202103485
googlers202103485
pharmgkbrs202103485
gwascentralrs202103485
openSNPrs202103485
23andMers202103485
23andMe allrs202103485
SNP Nexus

SNPshotrs202103485
SNPdbers202103485
MSV3drs202103485
GWAS Ctlgrs202103485
Max Magnitude0
ClinVar
Risk rs202103485(T;T)
Alt rs202103485(T;T)
Reference rs202103485(C;C)
Significance Pathogenic
Disease Xerocytosis
Variation info
Gene LOC100289580 PIEZO1
CLNDBN Xerocytosis
Reversed 0
HGVS NC_000016.9:g.88800060C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000049238.1,