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rs111033318

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111033318(A;A)
Make rs111033318(A;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position107702050
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs111033318
dbSNP (old)rs111033318
ClinGenrs111033318
ebirs111033318
HLIrs111033318
Exacrs111033318
Gnomadrs111033318
Varsomers111033318
Maprs111033318
PheGenIrs111033318
Biobankrs111033318
1000 genomesrs111033318
hgdprs111033318
ensemblrs111033318
gopubmedrs111033318
geneviewrs111033318
scholarrs111033318
googlers111033318
pharmgkbrs111033318
gwascentralrs111033318
openSNPrs111033318
23andMers111033318
23andMe allrs111033318
SNP Nexus

SNPshotrs111033318
SNPdbers111033318
MSV3drs111033318
GWAS Ctlgrs111033318
Max Magnitude0
ClinVar
Risk rs111033318(A;A)
Alt rs111033318(A;A)
Reference Rs111033318(T;T)
Significance Pathogenic
Disease Enlarged vestibular aqueduct syndrome Pendred's syndrome
Variation info
Gene SLC26A4
CLNDBN Enlarged vestibular aqueduct syndrome Pendred's syndrome
Reversed 0
HGVS NC_000007.13:g.107342495T>A
CLNSRC UniProtKB (protein)
CLNACC RCV000036468.2, RCV000169448.1,


[PMID 12676893OA-icon.png] Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness.