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rs137852711

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852711(A;A)
Make rs137852711(A;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position23371836
GeneSCNN1B
is asnp
is mentioned by
dbSNPrs137852711
dbSNP (classic)rs137852711
ClinGenrs137852711
ebirs137852711
HLIrs137852711
Exacrs137852711
Gnomadrs137852711
Varsomers137852711
LitVarrs137852711
Maprs137852711
PheGenIrs137852711
Biobankrs137852711
1000 genomesrs137852711
hgdprs137852711
ensemblrs137852711
geneviewrs137852711
scholarrs137852711
googlers137852711
pharmgkbrs137852711
gwascentralrs137852711
openSNPrs137852711
23andMers137852711
SNPshotrs137852711
SNPdbers137852711
MSV3drs137852711
GWAS Ctlgrs137852711
Max Magnitude0
OMIM600760
Desc
Variant0013
Relatedalso
ClinVar
Risk rs137852711(A;A)
Alt rs137852711(A;A)
Reference Rs137852711(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.23383157C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000009390.2,