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rs724159993

From SNPedia

Orientationminus
Geno Mag Summary
(GACTAGAG;GACTAGAG) 0 common in clinvar
Make rs724159993(-;-)
Make rs724159993(-;GACTAGAG)
ReferenceGRCh38.p2 38.2/144
Chromosome18
Position10671541
GenePIEZO2
is asnp
is mentioned by
dbSNPrs724159993
ebirs724159993
HLIrs724159993
Exacrs724159993
Varsomers724159993
Maprs724159993
PheGenIrs724159993
hapmaprs724159993
1000 genomesrs724159993
hgdprs724159993
ensemblrs724159993
gopubmedrs724159993
geneviewrs724159993
scholarrs724159993
googlers724159993
pharmgkbrs724159993
gwascentralrs724159993
openSNPrs724159993
23andMers724159993
23andMe allrs724159993
SNP Nexus

SNPshotrs724159993
SNPdbers724159993
MSV3drs724159993
GWAS Ctlgrs724159993
Max Magnitude0
ClinVar
Risk rs724159993(;)
Alt rs724159993(;)
Reference rs724159993(GACTAGAG;GACTAGAG)
Significance Pathogenic
Disease Gordon's syndrome
Variation info
Gene PIEZO2
CLNDBN Gordon's syndrome
Reversed 1
HGVS NC_000018.9:g.10671538_10671545delCTCTAGTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000125477.4,