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rs587777453

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs587777453(C;C)
Make rs587777453(C;T)
ReferenceGRCh38 38.1/142
Chromosome18
Position10789114
GenePIEZO2
is asnp
is mentioned by
dbSNPrs587777453
ebirs587777453
HLIrs587777453
Exacrs587777453
Varsomers587777453
Maprs587777453
PheGenIrs587777453
hapmaprs587777453
1000 genomesrs587777453
hgdprs587777453
ensemblrs587777453
gopubmedrs587777453
geneviewrs587777453
scholarrs587777453
googlers587777453
pharmgkbrs587777453
gwascentralrs587777453
openSNPrs587777453
23andMers587777453
23andMe allrs587777453
SNP Nexus

SNPshotrs587777453
SNPdbers587777453
MSV3drs587777453
GWAS Ctlgrs587777453
Max Magnitude0
ClinVar
Risk rs587777453(C,T;C,T)
Alt rs587777453(C,T;C,T)
Reference rs587777453(A;A)
Significance Pathogenic
Disease Oculomelic amyoplasia
Variation info
Gene PIEZO2
CLNDBN Oculomelic amyoplasia
Reversed 1
HGVS NC_000018.9:g.10789112T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000125482.3,