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rs137852709

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852709(C;T)
Make rs137852709(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position23367879
GeneSCNN1B
is asnp
is mentioned by
dbSNPrs137852709
dbSNP (classic)rs137852709
ClinGenrs137852709
ebirs137852709
HLIrs137852709
Exacrs137852709
Gnomadrs137852709
Varsomers137852709
LitVarrs137852709
Maprs137852709
PheGenIrs137852709
Biobankrs137852709
1000 genomesrs137852709
hgdprs137852709
ensemblrs137852709
geneviewrs137852709
scholarrs137852709
googlers137852709
pharmgkbrs137852709
gwascentralrs137852709
openSNPrs137852709
23andMers137852709
SNPshotrs137852709
SNPdbers137852709
MSV3drs137852709
GWAS Ctlgrs137852709
Max Magnitude0
OMIM600760
Desc
Variant0009
Relatedalso
ClinVar
Risk rs137852709(T;T)
Alt rs137852709(T;T)
Reference Rs137852709(C;C)
Significance Pathogenic
Disease Bronchiectasis with or without elevated sweat chloride 1
Variation info
Gene SCNN1B
CLNDBN Bronchiectasis with or without elevated sweat chloride 1
Reversed 0
HGVS NC_000016.9:g.23379200C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000009386.2,