Have questions? Visit https://www.reddit.com/r/SNPedia

rs121909390

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909390(C;T)
Make rs121909390(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position3229430
GeneSLC4A11
is asnp
is mentioned by
dbSNPrs121909390
dbSNP (classic)rs121909390
ClinGenrs121909390
ebirs121909390
HLIrs121909390
Exacrs121909390
Gnomadrs121909390
Varsomers121909390
LitVarrs121909390
Maprs121909390
PheGenIrs121909390
Biobankrs121909390
1000 genomesrs121909390
hgdprs121909390
ensemblrs121909390
geneviewrs121909390
scholarrs121909390
googlers121909390
pharmgkbrs121909390
gwascentralrs121909390
openSNPrs121909390
23andMers121909390
SNPshotrs121909390
SNPdbers121909390
MSV3drs121909390
GWAS Ctlgrs121909390
Max Magnitude0
OMIM610206
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121909390(T;T)
Alt rs121909390(T;T)
Reference Rs121909390(C;C)
Significance Pathogenic
Disease Corneal endothelial dystrophy
Variation info
Gene SLC4A11
CLNDBN Corneal endothelial dystrophy
Reversed 1
HGVS NC_000020.10:g.3210076G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001370.3,