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rs121909387

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909387(A;A)
Make rs121909387(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position3228684
GeneSLC4A11
is asnp
is mentioned by
dbSNPrs121909387
dbSNP (classic)rs121909387
ClinGenrs121909387
ebirs121909387
HLIrs121909387
Exacrs121909387
Gnomadrs121909387
Varsomers121909387
LitVarrs121909387
Maprs121909387
PheGenIrs121909387
Biobankrs121909387
1000 genomesrs121909387
hgdprs121909387
ensemblrs121909387
geneviewrs121909387
scholarrs121909387
googlers121909387
pharmgkbrs121909387
gwascentralrs121909387
openSNPrs121909387
23andMers121909387
SNPshotrs121909387
SNPdbers121909387
MSV3drs121909387
GWAS Ctlgrs121909387
Max Magnitude0
OMIM610206
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121909387(A;A)
Alt rs121909387(A;A)
Reference Rs121909387(G;G)
Significance Pathogenic
Disease Corneal endothelial dystrophy
Variation info
Gene SLC4A11
CLNDBN Corneal endothelial dystrophy
Reversed 1
HGVS NC_000020.10:g.3209330C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001367.3,