Have questions? Visit https://www.reddit.com/r/SNPedia

rs5736

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs5736(A;A)
Make rs5736(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position23189600
GeneSCNN1G
is asnp
is mentioned by
dbSNPrs5736
ebirs5736
HLIrs5736
Exacrs5736
Varsomers5736
Maprs5736
PheGenIrs5736
hapmaprs5736
1000 genomesrs5736
hgdprs5736
ensemblrs5736
gopubmedrs5736
geneviewrs5736
scholarrs5736
googlers5736
pharmgkbrs5736
gwascentralrs5736
openSNPrs5736
23andMers5736
23andMe allrs5736
SNP Nexus

SNPshotrs5736
SNPdbers5736
MSV3drs5736
GWAS Ctlgrs5736
GMAF0.01194
Max Magnitude0
? (A;A) (A;G) (G;G) 28
OMIM600761
Desc
Variant0005
Relatedalso


ClinVar
Risk rs5736(A;A)
Alt rs5736(A;A)
Reference rs5736(G;G)
Significance Pathogenic
Disease Bronchiectasis with or without elevated sweat chloride 3 not provided
Variation info
Gene SCNN1G
CLNDBN Bronchiectasis with or without elevated sweat chloride 3 not provided
Reversed 0
HGVS NC_000016.9:g.23200921G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009376.2, RCV000224250.1,



GET Evidence
SCNN1G-G183S
aa_change Gly183Ser
aa_change_short G183S
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.0122699
summary This variant is associated with weak gain-of-function effect leading to bronchiectasis in one female of African origin.