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rs147952620

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs147952620(C;T)
Make rs147952620(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position107690199
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs147952620
dbSNP (old)rs147952620
ClinGenrs147952620
ebirs147952620
HLIrs147952620
Exacrs147952620
Gnomadrs147952620
Varsomers147952620
LitVarrs147952620
Maprs147952620
PheGenIrs147952620
Biobankrs147952620
1000 genomesrs147952620
hgdprs147952620
ensemblrs147952620
gopubmedrs147952620
geneviewrs147952620
scholarrs147952620
googlers147952620
pharmgkbrs147952620
gwascentralrs147952620
openSNPrs147952620
23andMers147952620
23andMe allrs147952620
SNPshotrs147952620
SNPdbers147952620
MSV3drs147952620
GWAS Ctlgrs147952620
Max Magnitude0
ClinVar
Risk rs147952620(T;T)
Alt rs147952620(T;T)
Reference Rs147952620(C;C)
Significance Probable-Pathogenic
Disease Pendred's syndrome
Variation info
Gene SLC26A4
CLNDBN Pendred's syndrome
Reversed 0
HGVS NC_000007.13:g.107330644C>T
CLNSRC
CLNACC RCV000411132.1,