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rs121909389

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909389(A;A)
Make rs121909389(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position3230587
GeneSLC4A11
is asnp
is mentioned by
dbSNPrs121909389
dbSNP (classic)rs121909389
ClinGenrs121909389
ebirs121909389
HLIrs121909389
Exacrs121909389
Gnomadrs121909389
Varsomers121909389
LitVarrs121909389
Maprs121909389
PheGenIrs121909389
Biobankrs121909389
1000 genomesrs121909389
hgdprs121909389
ensemblrs121909389
geneviewrs121909389
scholarrs121909389
googlers121909389
pharmgkbrs121909389
gwascentralrs121909389
openSNPrs121909389
23andMers121909389
SNPshotrs121909389
SNPdbers121909389
MSV3drs121909389
GWAS Ctlgrs121909389
Max Magnitude0
OMIM610206
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121909389(A;A)
Alt rs121909389(A;A)
Reference Rs121909389(G;G)
Significance Pathogenic
Disease Corneal endothelial dystrophy
Variation info
Gene SLC4A11
CLNDBN Corneal endothelial dystrophy
Reversed 1
HGVS NC_000020.10:g.3211233C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001369.3,