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rs202103485

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 1 Xerocytosis-associated according to literature, but probably actually of little consequence
Make rs202103485(T;T)
ReferenceGRCh38 38.1/142
Chromosome16
Position88733652
GeneLOC100289580, PIEZO1
is asnp
is mentioned by
dbSNPrs202103485
dbSNP (classic)rs202103485
ClinGenrs202103485
ebirs202103485
HLIrs202103485
Exacrs202103485
Gnomadrs202103485
Varsomers202103485
LitVarrs202103485
Maprs202103485
PheGenIrs202103485
Biobankrs202103485
1000 genomesrs202103485
hgdprs202103485
ensemblrs202103485
geneviewrs202103485
scholarrs202103485
googlers202103485
pharmgkbrs202103485
gwascentralrs202103485
openSNPrs202103485
23andMers202103485
23andMe allrs202103485
SNPshotrs202103485
SNPdbers202103485
MSV3drs202103485
GWAS Ctlgrs202103485
Max Magnitude1

aka c.2423G>A (p.Arg808Gln)

This variant is one of the three mutations in the PIEZO1 gene reported as inherited together: c.[1848+31C>G;2344G>A;2423G>A], which was reported as being associated with xerocytosis in a 2013 publication.[PMID 23479567]

The prevalence of xerocytosis (from all known mutations) in the population is historically reported as being around 1 in 50,000 individuals, and even a recent estimate based on CBC tests carried out on samples sent in from physicians (likely to have a bias towards affected patients) estimated a prevalence of around 1 in 8,000.[PMID 28971500]

However, the minor allele for both this variant and the linked rs200970763 are seen in around 1 in 200 people, based on both DNA chip data gathered by Promethease from both 23andMe and Ancestry raw data, and based on sequencing data (gnomAD). Therefore, because the observed frequency is at least 100-fold higher than the estimated prevalence, it is unlikely that either of these variants is actually causative for xerocystosis.


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 UniProtKB (protein)
CLNACC RCV000049238.1,