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rs61759860

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs61759860(C;T)
Make rs61759860(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position6374543
GeneLOC105369626, LTBR, SCNN1A
is asnp
is mentioned by
dbSNPrs61759860
dbSNP (classic)rs61759860
ClinGenrs61759860
ebirs61759860
HLIrs61759860
Exacrs61759860
Gnomadrs61759860
Varsomers61759860
LitVarrs61759860
Maprs61759860
PheGenIrs61759860
Biobankrs61759860
1000 genomesrs61759860
hgdprs61759860
ensemblrs61759860
geneviewrs61759860
scholarrs61759860
googlers61759860
pharmgkbrs61759860
gwascentralrs61759860
openSNPrs61759860
23andMers61759860
SNPshotrs61759860
SNPdbers61759860
MSV3drs61759860
GWAS Ctlgrs61759860
Max Magnitude0
OMIM600228
Desc
Variant0008
Relatedalso


ClinVar
Risk rs61759860(T;T)
Alt rs61759860(T;T)
Reference Rs61759860(C;C)
Significance Pathogenic
Disease Bronchiectasis with or without elevated sweat chloride 2
Variation info
Gene SCNN1A LTBR
CLNDBN Bronchiectasis with or without elevated sweat chloride 2
Reversed 1
HGVS NC_000012.11:g.6483709G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009852.5,