Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs200970763

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 rs200970763(T;T)
ReferenceGRCh38 38.1/142
Chromosome16
Position88733731
GeneLOC100289580, PIEZO1
is asnp
is mentioned by
dbSNPrs200970763
dbSNP (old)rs200970763
ClinGenrs200970763
ebirs200970763
HLIrs200970763
Exacrs200970763
Gnomadrs200970763
Varsomers200970763
Maprs200970763
PheGenIrs200970763
Biobankrs200970763
1000 genomesrs200970763
hgdprs200970763
ensemblrs200970763
gopubmedrs200970763
geneviewrs200970763
scholarrs200970763
googlers200970763
pharmgkbrs200970763
gwascentralrs200970763
openSNPrs200970763
23andMers200970763
23andMe allrs200970763
SNPshotrs200970763
SNPdbers200970763
MSV3drs200970763
GWAS Ctlgrs200970763
Max Magnitude1

aka c.2344G>A (p.Gly782Ser)

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 rs20210345 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 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 UniProtKB (protein)
CLNACC RCV000049238.1,