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rs587777450

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777450(C;T)
Make rs587777450(T;T)
ReferenceGRCh38 38.1/142
Chromosome18
Position10671729
GenePIEZO2
is asnp
is mentioned by
dbSNPrs587777450
ebirs587777450
HLIrs587777450
Exacrs587777450
Varsomers587777450
Maprs587777450
PheGenIrs587777450
hapmaprs587777450
1000 genomesrs587777450
hgdprs587777450
ensemblrs587777450
gopubmedrs587777450
geneviewrs587777450
scholarrs587777450
googlers587777450
pharmgkbrs587777450
gwascentralrs587777450
openSNPrs587777450
23andMers587777450
23andMe allrs587777450
SNP Nexus

SNPshotrs587777450
SNPdbers587777450
MSV3drs587777450
GWAS Ctlgrs587777450
Max Magnitude0
ClinVar
Risk rs587777450(C,T;C,T)
Alt rs587777450(C,T;C,T)
Reference rs587777450(G;G)
Significance Pathogenic
Disease Gordon's syndrome Oculomelic amyoplasia
Variation info
Gene PIEZO2
CLNDBN Gordon's syndrome Oculomelic amyoplasia
Reversed 1
HGVS NC_000018.9:g.10671726C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000125478.3, RCV000224805.1,