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rs587777451

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777451(A;A)
Make rs587777451(A;G)
ReferenceGRCh38 38.1/142
Chromosome18
Position10671730
GenePIEZO2
is asnp
is mentioned by
dbSNPrs587777451
dbSNP (classic)rs587777451
ClinGenrs587777451
ebirs587777451
HLIrs587777451
Exacrs587777451
Gnomadrs587777451
Varsomers587777451
LitVarrs587777451
Maprs587777451
PheGenIrs587777451
Biobankrs587777451
1000 genomesrs587777451
hgdprs587777451
ensemblrs587777451
geneviewrs587777451
scholarrs587777451
googlers587777451
pharmgkbrs587777451
gwascentralrs587777451
openSNPrs587777451
23andMers587777451
SNPshotrs587777451
SNPdbers587777451
MSV3drs587777451
GWAS Ctlgrs587777451
Max Magnitude0
ClinVar
Risk rs587777451(A;A) Rs587777451(G;G)
Alt rs587777451(A;A) Rs587777451(G;G)
Reference Rs587777451(C;C)
Significance Pathogenic
Disease Marden-Walker syndrome
Variation info
Gene PIEZO2
CLNDBN Marden-Walker syndrome
Reversed 1
HGVS NC_000018.9:g.10671727G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000125479.4,