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rs267607066

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 4 Corneal dystrophy, fuchs endothelial, 4
Make rs267607066(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position3228687
GeneSLC4A11
is asnp
is mentioned by
dbSNPrs267607066
dbSNP (classic)rs267607066
ClinGenrs267607066
ebirs267607066
HLIrs267607066
Exacrs267607066
Gnomadrs267607066
Varsomers267607066
LitVarrs267607066
Maprs267607066
PheGenIrs267607066
Biobankrs267607066
1000 genomesrs267607066
hgdprs267607066
ensemblrs267607066
geneviewrs267607066
scholarrs267607066
googlers267607066
pharmgkbrs267607066
gwascentralrs267607066
openSNPrs267607066
23andMers267607066
SNPshotrs267607066
SNPdbers267607066
MSV3drs267607066
GWAS Ctlgrs267607066
Max Magnitude4
ClinVar
Risk rs267607066(T;T)
Alt rs267607066(T;T)
Reference Rs267607066(C;C)
Significance Pathogenic
Disease Corneal dystrophy
Variation info
Gene SLC4A11
CLNDBN Corneal dystrophy, Fuchs endothelial, 4
Reversed 1
HGVS NC_000020.10:g.3209333G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001384.3,