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rs145254330

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs145254330(C;T)
Make rs145254330(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position107672182
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs145254330
ebirs145254330
HLIrs145254330
Exacrs145254330
Varsomers145254330
Maprs145254330
PheGenIrs145254330
hapmaprs145254330
1000 genomesrs145254330
hgdprs145254330
ensemblrs145254330
gopubmedrs145254330
geneviewrs145254330
scholarrs145254330
googlers145254330
pharmgkbrs145254330
gwascentralrs145254330
openSNPrs145254330
23andMers145254330
23andMe allrs145254330
SNP Nexus

SNPshotrs145254330
SNPdbers145254330
MSV3drs145254330
GWAS Ctlgrs145254330
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs145254330(T;T)
Alt rs145254330(T;T)
Reference rs145254330(C;C)
Significance Pathogenic
Disease not specified Enlarged vestibular aqueduct syndrome Pendred's syndrome
Variation info
Gene SLC26A4
CLNDBN not specified Enlarged vestibular aqueduct syndrome Pendred's syndrome
Reversed 0
HGVS NC_000007.13:g.107312627C>T
CLNSRC ClinVar
CLNACC RCV000036491.2, RCV000225014.1, RCV000225040.1, RCV000225082.1,