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rs267607065

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 4 Corneal dystrophy, fuchs endothelial, 4
(G;G) 0 common in clinvar


Make rs267607065(A;A)
ReferenceGRCh38 38.1/141
Chromosome20
Position3230954
GeneSLC4A11
is asnp
is mentioned by
dbSNPrs267607065
dbSNP (classic)rs267607065
ClinGenrs267607065
ebirs267607065
HLIrs267607065
Exacrs267607065
Gnomadrs267607065
Varsomers267607065
LitVarrs267607065
Maprs267607065
PheGenIrs267607065
Biobankrs267607065
1000 genomesrs267607065
hgdprs267607065
ensemblrs267607065
geneviewrs267607065
scholarrs267607065
googlers267607065
pharmgkbrs267607065
gwascentralrs267607065
openSNPrs267607065
23andMers267607065
SNPshotrs267607065
SNPdbers267607065
MSV3drs267607065
GWAS Ctlgrs267607065
Max Magnitude4
ClinVar
Risk rs267607065(A;A)
Alt rs267607065(A;A)
Reference Rs267607065(G;G)
Significance Pathogenic
Disease Corneal dystrophy
Variation info
Gene SLC4A11
CLNDBN Corneal dystrophy, Fuchs endothelial, 4
Reversed 1
HGVS NC_000020.10:g.3211600C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001386.3,