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rs587777076

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs587777076(A;T)
ReferenceGRCh38 38.1/142
Chromosome18
Position10784872
GenePIEZO2
is asnp
is mentioned by
dbSNPrs587777076
dbSNP (classic)rs587777076
ClinGenrs587777076
ebirs587777076
HLIrs587777076
Exacrs587777076
Gnomadrs587777076
Varsomers587777076
LitVarrs587777076
Maprs587777076
PheGenIrs587777076
Biobankrs587777076
1000 genomesrs587777076
hgdprs587777076
ensemblrs587777076
geneviewrs587777076
scholarrs587777076
googlers587777076
pharmgkbrs587777076
gwascentralrs587777076
openSNPrs587777076
23andMers587777076
SNPshotrs587777076
SNPdbers587777076
MSV3drs587777076
GWAS Ctlgrs587777076
Max Magnitude0
ClinVar
Risk Rs587777076(T;T)
Alt Rs587777076(T;T)
Reference Rs587777076(A;A)
Significance Pathogenic
Disease Oculomelic amyoplasia
Variation info
Gene PIEZO2
CLNDBN Oculomelic amyoplasia
Reversed 1
HGVS NC_000018.9:g.10784870T>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000082866.3,