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rs5742912

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs5742912(C;C)
Make rs5742912(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position6349184
GeneSCNN1A
is asnp
is mentioned by
dbSNPrs5742912
ebirs5742912
HLIrs5742912
Exacrs5742912
Varsomers5742912
Maprs5742912
PheGenIrs5742912
hapmaprs5742912
1000 genomesrs5742912
hgdprs5742912
ensemblrs5742912
gopubmedrs5742912
geneviewrs5742912
scholarrs5742912
googlers5742912
pharmgkbrs5742912
gwascentralrs5742912
openSNPrs5742912
23andMers5742912
23andMe allrs5742912
SNP Nexus

SNPshotrs5742912
SNPdbers5742912
MSV3drs5742912
GWAS Ctlgrs5742912
GMAF0.01194
Max Magnitude0
? (C;C) (C;T) (T;T) 28
[PMID 19619703OA-icon.png] Association of genetic variants with the metabolic syndrome in 20,806 white women: The women's health genome study
OMIM600228
Desc
Variant0007
Relatedalso


ClinVar
Risk rs5742912(C;C)
Alt rs5742912(C;C)
Reference rs5742912(T;T)
Significance Other
Disease Bronchiectasis with or without elevated sweat chloride 2 not specified
Variation info
Gene SCNN1A
CLNDBN Bronchiectasis with or without elevated sweat chloride 2 not specified
Reversed 1
HGVS NC_000012.11:g.6458350A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009851.2, RCV000173721.2,



[PMID 18513389OA-icon.png] New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background.

[PMID 19131662OA-icon.png] A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.

[PMID 19330901OA-icon.png] Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study.

[PMID 19559392OA-icon.png] A candidate gene association study of 77 polymorphisms in migraine.


GET Evidence
SCNN1A-W493R
aa_change Trp493Arg
aa_change_short W493R
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.0078125
summary