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rs121909396

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121909396(A;G)
Make rs121909396(G;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position3228299
GeneSLC4A11
is asnp
is mentioned by
dbSNPrs121909396
ebirs121909396
HLIrs121909396
Exacrs121909396
Varsomers121909396
Maprs121909396
PheGenIrs121909396
hapmaprs121909396
1000 genomesrs121909396
hgdprs121909396
ensemblrs121909396
gopubmedrs121909396
geneviewrs121909396
scholarrs121909396
googlers121909396
pharmgkbrs121909396
gwascentralrs121909396
openSNPrs121909396
23andMers121909396
23andMe allrs121909396
SNP Nexus

SNPshotrs121909396
SNPdbers121909396
MSV3drs121909396
GWAS Ctlgrs121909396
Max Magnitude0
OMIM610206
Desc
Variant0016
Relatedalso
ClinVar
Risk rs121909396(G;G)
Alt rs121909396(G;G)
Reference rs121909396(A;A)
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.3208945T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001378.2,