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rs587777454

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs587777454(A;G)
Make rs587777454(G;G)
ReferenceGRCh38 38.1/142
Chromosome18
Position10671571
GenePIEZO2
is asnp
is mentioned by
dbSNPrs587777454
ebirs587777454
HLIrs587777454
Exacrs587777454
Varsomers587777454
Maprs587777454
PheGenIrs587777454
hapmaprs587777454
1000 genomesrs587777454
hgdprs587777454
ensemblrs587777454
gopubmedrs587777454
geneviewrs587777454
scholarrs587777454
googlers587777454
pharmgkbrs587777454
gwascentralrs587777454
openSNPrs587777454
23andMers587777454
23andMe allrs587777454
SNP Nexus

SNPshotrs587777454
SNPdbers587777454
MSV3drs587777454
GWAS Ctlgrs587777454
Max Magnitude0
ClinVar
Risk rs587777454(A,G;A,G)
Alt rs587777454(A,G;A,G)
Reference rs587777454(T;T)
Significance Pathogenic
Disease Oculomelic amyoplasia
Variation info
Gene PIEZO2
CLNDBN Oculomelic amyoplasia
Reversed 1
HGVS NC_000018.9:g.10671568A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000125483.3,