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rs587777571

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(CT;CT) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777571(-;-)
Make rs587777571(-;G)
ReferenceGRCh38 38.1/142
Chromosome2
Position1649212
GenePXDN
is asnp
is mentioned by
dbSNPrs587777571
dbSNP (classic)rs587777571
ClinGenrs587777571
ebirs587777571
HLIrs587777571
Exacrs587777571
Gnomadrs587777571
Varsomers587777571
LitVarrs587777571
Maprs587777571
PheGenIrs587777571
Biobankrs587777571
1000 genomesrs587777571
hgdprs587777571
ensemblrs587777571
geneviewrs587777571
scholarrs587777571
googlers587777571
pharmgkbrs587777571
gwascentralrs587777571
openSNPrs587777571
23andMers587777571
SNPshotrs587777571
SNPdbers587777571
MSV3drs587777571
GWAS Ctlgrs587777571
Max Magnitude0
ClinVar
Risk Rs587777571(G;G) rs587777571(-;-)
Alt Rs587777571(G;G) rs587777571(-;-)
Reference Rs587777571(C;C)
Significance Pathogenic
Disease Anterior segment dysgenesis 7
Variation info
Gene PXDN
CLNDBN Anterior segment dysgenesis 7
Reversed 1
HGVS NC_000002.11:g.1652984delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000128853.4,