rs5738

Orientation

plus

Stabilized

plus

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

Make rs5738(A;A)

Make rs5738(A;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

23189642

Gene

SCNN1G

is a	snp
is	mentioned by
dbSNP	rs5738
dbSNP (classic)	rs5738
ClinGen	rs5738
ebi	rs5738
HLI	rs5738
Exac	rs5738
Gnomad	rs5738
Varsome	rs5738
LitVar	rs5738
Map	rs5738
PheGenI	rs5738
Biobank	rs5738
1000 genomes	rs5738
hgdp	rs5738
ensembl	rs5738
geneview	rs5738
scholar	rs5738
google	rs5738
pharmgkb	rs5738
gwascentral	rs5738
openSNP	rs5738
23andMe	rs5738
SNPshot	rs5738
SNPdbe	rs5738
MSV3d	rs5738
GWAS Ctlg	rs5738

GMAF

0.003214

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

OMIM	600761
Desc
Variant	0006
Related	also

ClinVar
Risk	rs5738(A;A)
Alt	rs5738(A;A)
Reference	Rs5738(G;G)
Significance	Pathogenic
Disease	Bronchiectasis with or without elevated sweat chloride 3 not specified Pseudoprimary hyperaldosteronism Pseudohypoaldosteronism
Variation	info
Gene	SCNN1G
CLNDBN	Bronchiectasis with or without elevated sweat chloride 3 not specified Pseudoprimary hyperaldosteronism Pseudohypoaldosteronism, Type I, Recessive
Reversed	0
HGVS	NC_000016.9:g.23200963G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009377.2, RCV000250994.1, RCV000334111.1, RCV000388570.1,