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rs587777452

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777452(A;A)
Make rs587777452(A;C)
ReferenceGRCh38 38.1/142
Chromosome18
Position10671633
GenePIEZO2
is asnp
is mentioned by
dbSNPrs587777452
ebirs587777452
HLIrs587777452
Exacrs587777452
Varsomers587777452
Maprs587777452
PheGenIrs587777452
hapmaprs587777452
1000 genomesrs587777452
hgdprs587777452
ensemblrs587777452
gopubmedrs587777452
geneviewrs587777452
scholarrs587777452
googlers587777452
pharmgkbrs587777452
gwascentralrs587777452
openSNPrs587777452
23andMers587777452
23andMe allrs587777452
SNP Nexus

SNPshotrs587777452
SNPdbers587777452
MSV3drs587777452
GWAS Ctlgrs587777452
Max Magnitude0
ClinVar
Risk rs587777452(A,C;A,C)
Alt rs587777452(A,C;A,C)
Reference rs587777452(G;G)
Significance Pathogenic
Disease Oculomelic amyoplasia
Variation info
Gene PIEZO2
CLNDBN Oculomelic amyoplasia
Reversed 1
HGVS NC_000018.9:g.10671630C>A; NC_000018.9:g.10671630C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000125480.3, RCV000125481.3,