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rs542620119

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs542620119(C;C)
Make rs542620119(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position107674302
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs542620119
ebirs542620119
HLIrs542620119
Exacrs542620119
Varsomers542620119
Maprs542620119
PheGenIrs542620119
hapmaprs542620119
1000 genomesrs542620119
hgdprs542620119
ensemblrs542620119
gopubmedrs542620119
geneviewrs542620119
scholarrs542620119
googlers542620119
pharmgkbrs542620119
gwascentralrs542620119
openSNPrs542620119
23andMers542620119
23andMe allrs542620119
SNP Nexus

SNPshotrs542620119
SNPdbers542620119
MSV3drs542620119
GWAS Ctlgrs542620119
Max Magnitude0
ClinVar
Risk rs542620119(C;C)
Alt rs542620119(C;C)
Reference rs542620119(G;G)
Significance Pathogenic
Disease Pendred's syndrome Enlarged vestibular aqueduct syndrome
Variation info
Gene SLC26A4
CLNDBN Pendred's syndrome Enlarged vestibular aqueduct syndrome
Reversed 0
HGVS NC_000007.13:g.107314747G>C
CLNSRC
CLNACC RCV000169232.1, RCV000214962.1,