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rs2228576

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs2228576(A;G)
Make rs2228576(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position6347896
GeneSCNN1A
is asnp
is mentioned by
dbSNPrs2228576
ebirs2228576
HLIrs2228576
Exacrs2228576
Varsomers2228576
Maprs2228576
PheGenIrs2228576
hapmaprs2228576
1000 genomesrs2228576
hgdprs2228576
ensemblrs2228576
gopubmedrs2228576
geneviewrs2228576
scholarrs2228576
googlers2228576
pharmgkbrs2228576
gwascentralrs2228576
openSNPrs2228576
23andMers2228576
23andMe allrs2228576
SNP Nexus

SNPshotrs2228576
SNPdbers2228576
MSV3drs2228576
GWAS Ctlgrs2228576
GMAF0.281
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene SCNN1A
allele C
frequency 0.263
sift TOLERATED
HuRef 1103649356292
Disease Association Defects in SCNN1A are a cause of autosomal recessive pseudohypoaldosteronism type 1 (PHA1) (MIM:264350). PHA1 is a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. There are 2 forms of PHA1: the autosomal recessive form that is severe, and the dominant form which is more milder and due to defects in mineralocorticoid receptor. Autosomal recessive PHA1 is characterized by an often fulminant presentation in the neonatal period with dehydration, hyponatraemia, hyperkalaemia, metabolic acidosis, failure to thrive and weight loss.



[PMID 20577119OA-icon.png] Pharmacogenetic association of hypertension candidate genes with fasting glucose in the GenHAT Study

[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 19263529OA-icon.png] Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.

[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-T722A
aa_change Thr722Ala
aa_change_short T722A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.768878
summary



ClinVar
Risk rs2228576(G,T;G,T)
Alt rs2228576(G,T;G,T)
Reference rs2228576(A;A)
Significance Non-pathogenic
Disease not specified
Variation info
Gene SCNN1A
CLNDBN not specified
Reversed 1
HGVS NC_000012.11:g.6457062T>C
CLNSRC
CLNACC RCV000151811.2,