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rs181958589

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs181958589(C;C)
Make rs181958589(C;G)
ReferenceGRCh38 38.1/142
Chromosome15
Position86674322
GeneAGBL1
is asnp
is mentioned by
dbSNPrs181958589
dbSNP (classic)rs181958589
ClinGenrs181958589
ebirs181958589
HLIrs181958589
Exacrs181958589
Gnomadrs181958589
Varsomers181958589
LitVarrs181958589
Maprs181958589
PheGenIrs181958589
Biobankrs181958589
1000 genomesrs181958589
hgdprs181958589
ensemblrs181958589
geneviewrs181958589
scholarrs181958589
googlers181958589
pharmgkbrs181958589
gwascentralrs181958589
openSNPrs181958589
23andMers181958589
SNPshotrs181958589
SNPdbers181958589
MSV3drs181958589
GWAS Ctlgrs181958589
Max Magnitude0
ClinVar
Risk rs181958589(C;C)
Alt rs181958589(C;C)
Reference Rs181958589(G;G)
Significance Pathogenic
Disease Corneal dystrophy
Variation info
Gene AGBL1
CLNDBN Corneal dystrophy, Fuchs endothelial, 8
Reversed 0
HGVS NC_000015.9:g.87217553G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000074409.2,