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rs121909388

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909388(C;T)
Make rs121909388(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position3230258
GeneSLC4A11
is asnp
is mentioned by
dbSNPrs121909388
dbSNP (classic)rs121909388
ClinGenrs121909388
ebirs121909388
HLIrs121909388
Exacrs121909388
Gnomadrs121909388
Varsomers121909388
LitVarrs121909388
Maprs121909388
PheGenIrs121909388
Biobankrs121909388
1000 genomesrs121909388
hgdprs121909388
ensemblrs121909388
geneviewrs121909388
scholarrs121909388
googlers121909388
pharmgkbrs121909388
gwascentralrs121909388
openSNPrs121909388
23andMers121909388
SNPshotrs121909388
SNPdbers121909388
MSV3drs121909388
GWAS Ctlgrs121909388
Max Magnitude0
OMIM610206
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121909388(T;T)
Alt rs121909388(T;T)
Reference Rs121909388(C;C)
Significance Pathogenic
Disease Corneal endothelial dystrophy
Variation info
Gene SLC4A11
CLNDBN Corneal endothelial dystrophy
Reversed 1
HGVS NC_000020.10:g.3210904G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001368.3,