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rs61759861

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs61759861(A;A)
Make rs61759861(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position6374444
GeneLOC105369626, LTBR, SCNN1A
is asnp
is mentioned by
dbSNPrs61759861
dbSNP (classic)rs61759861
ClinGenrs61759861
ebirs61759861
HLIrs61759861
Exacrs61759861
Gnomadrs61759861
Varsomers61759861
LitVarrs61759861
Maprs61759861
PheGenIrs61759861
Biobankrs61759861
1000 genomesrs61759861
hgdprs61759861
ensemblrs61759861
geneviewrs61759861
scholarrs61759861
googlers61759861
pharmgkbrs61759861
gwascentralrs61759861
openSNPrs61759861
23andMers61759861
SNPshotrs61759861
SNPdbers61759861
MSV3drs61759861
GWAS Ctlgrs61759861
GMAF0.0004591
Max Magnitude0
OMIM600228
Desc
Variant0006
Relatedalso


ClinVar
Risk rs61759861(A;A)
Alt rs61759861(A;A)
Reference Rs61759861(G;G)
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.6483610C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000009850.2,