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rs121909391

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909391(C;T)
Make rs121909391(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position3228260
GeneSLC4A11
is asnp
is mentioned by
dbSNPrs121909391
dbSNP (classic)rs121909391
ClinGenrs121909391
ebirs121909391
HLIrs121909391
Exacrs121909391
Gnomadrs121909391
Varsomers121909391
LitVarrs121909391
Maprs121909391
PheGenIrs121909391
Biobankrs121909391
1000 genomesrs121909391
hgdprs121909391
ensemblrs121909391
geneviewrs121909391
scholarrs121909391
googlers121909391
pharmgkbrs121909391
gwascentralrs121909391
openSNPrs121909391
23andMers121909391
SNPshotrs121909391
SNPdbers121909391
MSV3drs121909391
GWAS Ctlgrs121909391
Max Magnitude0
OMIM610206
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121909391(T;T)
Alt rs121909391(T;T)
Reference Rs121909391(C;C)
Significance Pathogenic
Disease Corneal endothelial dystrophy
Variation info
Gene SLC4A11
CLNDBN Corneal endothelial dystrophy
Reversed 1
HGVS NC_000020.10:g.3208906G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001372.3,