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rs111033317

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs111033317(-;-)
Make rs111033317(-;C)
Make rs111033317(C;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position107698045
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs111033317
ebirs111033317
HLIrs111033317
Exacrs111033317
Varsomers111033317
Maprs111033317
PheGenIrs111033317
hapmaprs111033317
1000 genomesrs111033317
hgdprs111033317
ensemblrs111033317
gopubmedrs111033317
geneviewrs111033317
scholarrs111033317
googlers111033317
pharmgkbrs111033317
gwascentralrs111033317
openSNPrs111033317
23andMers111033317
23andMe allrs111033317
SNP Nexus

SNPshotrs111033317
SNPdbers111033317
MSV3drs111033317
GWAS Ctlgrs111033317
Max Magnitude0
ClinVar
Risk rs111033317(C;C)
Alt rs111033317(C;C)
Reference rs111033317(;)
Significance Probable-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.107338490_107338491insC
CLNSRC ClinVar
CLNACC RCV000036448.2,


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