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rs727505230

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs727505230(C;C)
Make rs727505230(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position107700181
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs727505230
ebirs727505230
HLIrs727505230
Exacrs727505230
Varsomers727505230
Maprs727505230
PheGenIrs727505230
hapmaprs727505230
1000 genomesrs727505230
hgdprs727505230
ensemblrs727505230
gopubmedrs727505230
geneviewrs727505230
scholarrs727505230
googlers727505230
pharmgkbrs727505230
gwascentralrs727505230
openSNPrs727505230
23andMers727505230
23andMe allrs727505230
SNP Nexus

SNPshotrs727505230
SNPdbers727505230
MSV3drs727505230
GWAS Ctlgrs727505230
Max Magnitude0
ClinVar
Risk rs727505230(C;C)
Alt rs727505230(C;C)
Reference rs727505230(T;T)
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.107340626T>C
CLNSRC
CLNACC RCV000156735.1,