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rs111033309

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033309(A;A)
Make rs111033309(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position107702038
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs111033309
ebirs111033309
HLIrs111033309
Exacrs111033309
Varsomers111033309
Maprs111033309
PheGenIrs111033309
hapmaprs111033309
1000 genomesrs111033309
hgdprs111033309
ensemblrs111033309
gopubmedrs111033309
geneviewrs111033309
scholarrs111033309
googlers111033309
pharmgkbrs111033309
gwascentralrs111033309
openSNPrs111033309
23andMers111033309
23andMe allrs111033309
SNP Nexus

SNPshotrs111033309
SNPdbers111033309
MSV3drs111033309
GWAS Ctlgrs111033309
Max Magnitude0
ClinVar
Risk rs111033309(A;A)
Alt rs111033309(A;A)
Reference rs111033309(G;G)
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.107342483G>A
CLNSRC ClinVar
CLNACC RCV000036467.3,


[PMID 9618167] Molecular analysis of the PDS gene in Pendred syndrome.


[PMID 11317356] Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.


[PMID 11932316] Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome.