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

rs121909394

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121909394(C;C)
Make rs121909394(C;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position3228337
GeneSLC4A11
is asnp
is mentioned by
dbSNPrs121909394
ebirs121909394
HLIrs121909394
Exacrs121909394
Varsomers121909394
Maprs121909394
PheGenIrs121909394
hapmaprs121909394
1000 genomesrs121909394
hgdprs121909394
ensemblrs121909394
gopubmedrs121909394
geneviewrs121909394
scholarrs121909394
googlers121909394
pharmgkbrs121909394
gwascentralrs121909394
openSNPrs121909394
23andMers121909394
23andMe allrs121909394
SNP Nexus

SNPshotrs121909394
SNPdbers121909394
MSV3drs121909394
GWAS Ctlgrs121909394
Max Magnitude0
OMIM610206
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121909394(C;C)
Alt rs121909394(C;C)
Reference rs121909394(T;T)
Significance Pathogenic
Disease Corneal dystrophy and perceptive deafness
Variation info
Gene SLC4A11
CLNDBN Corneal dystrophy and perceptive deafness
Reversed 1
HGVS NC_000020.10:g.3208983A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000001379.3,