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rs267607064

From SNPedia

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


Make rs267607064(A;A)
ReferenceGRCh38 38.1/141
Chromosome20
Position3228952
GeneSLC4A11
is asnp
is mentioned by
dbSNPrs267607064
dbSNP (classic)rs267607064
ClinGenrs267607064
ebirs267607064
HLIrs267607064
Exacrs267607064
Gnomadrs267607064
Varsomers267607064
LitVarrs267607064
Maprs267607064
PheGenIrs267607064
Biobankrs267607064
1000 genomesrs267607064
hgdprs267607064
ensemblrs267607064
geneviewrs267607064
scholarrs267607064
googlers267607064
pharmgkbrs267607064
gwascentralrs267607064
openSNPrs267607064
23andMers267607064
SNPshotrs267607064
SNPdbers267607064
MSV3drs267607064
GWAS Ctlgrs267607064
Max Magnitude4
ClinVar
Risk rs267607064(A;A)
Alt rs267607064(A;A)
Reference Rs267607064(G;G)
Significance Pathogenic
Disease Corneal dystrophy
Variation info
Gene SLC4A11
CLNDBN Corneal dystrophy, Fuchs endothelial, 4
Reversed 1
HGVS NC_000020.10:g.3209598C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001383.3,