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rs121909393

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909393(A;A)
Make rs121909393(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position3230515
GeneSLC4A11
is asnp
is mentioned by
dbSNPrs121909393
ebirs121909393
HLIrs121909393
Exacrs121909393
Varsomers121909393
Maprs121909393
PheGenIrs121909393
hapmaprs121909393
1000 genomesrs121909393
hgdprs121909393
ensemblrs121909393
gopubmedrs121909393
geneviewrs121909393
scholarrs121909393
googlers121909393
pharmgkbrs121909393
gwascentralrs121909393
openSNPrs121909393
23andMers121909393
23andMe allrs121909393
SNP Nexus

SNPshotrs121909393
SNPdbers121909393
MSV3drs121909393
GWAS Ctlgrs121909393
Max Magnitude0
OMIM610206
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121909393(A;A)
Alt rs121909393(A;A)
Reference rs121909393(G;G)
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.3211161C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001377.3,