rs2228576

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs2228576(A;G)

Make rs2228576(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

6347896

Gene	LOC107984500, SCNN1A

is a	snp
is	mentioned by
dbSNP	rs2228576
dbSNP (classic)	rs2228576
ClinGen	rs2228576
ebi	rs2228576
HLI	rs2228576
Exac	rs2228576
Gnomad	rs2228576
Varsome	rs2228576
LitVar	rs2228576
Map	rs2228576
PheGenI	rs2228576
Biobank	rs2228576
1000 genomes	rs2228576
hgdp	rs2228576
ensembl	rs2228576
geneview	rs2228576
scholar	rs2228576
google	rs2228576
pharmgkb	rs2228576
gwascentral	rs2228576
openSNP	rs2228576
23andMe	rs2228576
SNPshot	rs2228576
SNPdbe	rs2228576
MSV3d	rs2228576
GWAS Ctlg	rs2228576

GMAF

0.281

Max Magnitude

0

?

(A;A) (A;G) (G;G)

28

[PMID 20577119 ] Pharmacogenetic association of hypertension candidate genes with fasting glucose in the GenHAT Study

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

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

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

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

[PMID 19559392 ] A candidate gene association study of 77 polymorphisms in migraine.

ClinVar
Risk	rs2228576(G;G) rs2228576(T;T)
Alt	rs2228576(G;G) rs2228576(T;T)
Reference	Rs2228576(A;A)
Significance	Non-pathogenic
Disease	not specified Pseudohypoaldosteronism Cystic Fibrosis-Like Syndrome
Variation	info
Gene	SCNN1A
CLNDBN	not specified Pseudohypoaldosteronism, Type I, Recessive Cystic Fibrosis-Like Syndrome
Reversed	1
HGVS	NC_000012.11:g.6457062T>C
CLNSRC
CLNACC	RCV000151811.3, RCV000295920.1, RCV000325126.1,