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rs121909395

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121909395(C;C)
Make rs121909395(C;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position3233937
GeneSLC4A11
is asnp
is mentioned by
dbSNPrs121909395
ebirs121909395
HLIrs121909395
Exacrs121909395
Varsomers121909395
Maprs121909395
PheGenIrs121909395
hapmaprs121909395
1000 genomesrs121909395
hgdprs121909395
ensemblrs121909395
gopubmedrs121909395
geneviewrs121909395
scholarrs121909395
googlers121909395
pharmgkbrs121909395
gwascentralrs121909395
openSNPrs121909395
23andMers121909395
23andMe allrs121909395
SNP Nexus

SNPshotrs121909395
SNPdbers121909395
MSV3drs121909395
GWAS Ctlgrs121909395
Max Magnitude0
OMIM610206
Desc
Variant0015
Relatedalso
ClinVar
Risk rs121909395(C;C)
Alt rs121909395(C;C)
Reference rs121909395(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.3214583A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000001382.3,