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rs121909392

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909392(A;A)
Make rs121909392(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position3228259
GeneSLC4A11
is asnp
is mentioned by
dbSNPrs121909392
dbSNP (classic)rs121909392
ClinGenrs121909392
ebirs121909392
HLIrs121909392
Exacrs121909392
Gnomadrs121909392
Varsomers121909392
LitVarrs121909392
Maprs121909392
PheGenIrs121909392
Biobankrs121909392
1000 genomesrs121909392
hgdprs121909392
ensemblrs121909392
geneviewrs121909392
scholarrs121909392
googlers121909392
pharmgkbrs121909392
gwascentralrs121909392
openSNPrs121909392
23andMers121909392
SNPshotrs121909392
SNPdbers121909392
MSV3drs121909392
GWAS Ctlgrs121909392
Max Magnitude0
OMIM610206
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121909392(A;A)
Alt rs121909392(A;A)
Reference Rs121909392(G;G)
Significance Pathogenic
Disease Corneal endothelial dystrophy
Variation info
Gene SLC4A11
CLNDBN Corneal endothelial dystrophy
Reversed 1
HGVS NC_000020.10:g.3208905C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001374.3,