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

rs5738

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs5738(A;A)
Make rs5738(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position23189642
GeneSCNN1G
is asnp
is mentioned by
dbSNPrs5738
ebirs5738
HLIrs5738
Exacrs5738
Varsomers5738
Maprs5738
PheGenIrs5738
hapmaprs5738
1000 genomesrs5738
hgdprs5738
ensemblrs5738
gopubmedrs5738
geneviewrs5738
scholarrs5738
googlers5738
pharmgkbrs5738
gwascentralrs5738
openSNPrs5738
23andMers5738
23andMe allrs5738
SNP Nexus

SNPshotrs5738
SNPdbers5738
MSV3drs5738
GWAS Ctlgrs5738
GMAF0.003214
Max Magnitude0
? (A;A) (A;G) (G;G) 28
OMIM600761
Desc
Variant0006
Relatedalso


ClinVar
Risk rs5738(A;A)
Alt rs5738(A;A)
Reference rs5738(G;G)
Significance Pathogenic
Disease Bronchiectasis with or without elevated sweat chloride 3
Variation info
Gene SCNN1G
CLNDBN Bronchiectasis with or without elevated sweat chloride 3
Reversed 0
HGVS NC_000016.9:g.23200963G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009377.2,



GET Evidence
SCNN1G-E197K
aa_change Glu197Lys
aa_change_short E197K
impact pathogenic
qualified_impact Low clinical importance, Uncertain pathogenic
overall_frequency 0.00641383
summary May cause slight increased risk of rare, CFTR-like disease.