rs137852712

Orientation

plus

Stabilized

plus

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

Make rs137852712(A;G)

Make rs137852712(G;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

23367942

Gene

SCNN1B

is a	snp
is	mentioned by
dbSNP	rs137852712
dbSNP (classic)	rs137852712
ClinGen	rs137852712
ebi	rs137852712
HLI	rs137852712
Exac	rs137852712
Gnomad	rs137852712
Varsome	rs137852712
LitVar	rs137852712
Map	rs137852712
PheGenI	rs137852712
Biobank	rs137852712
1000 genomes	rs137852712
hgdp	rs137852712
ensembl	rs137852712
geneview	rs137852712
scholar	rs137852712
google	rs137852712
pharmgkb	rs137852712
gwascentral	rs137852712
openSNP	rs137852712
23andMe	rs137852712
SNPshot	rs137852712
SNPdbe	rs137852712
MSV3d	rs137852712
GWAS Ctlg	rs137852712

Max Magnitude

0

OMIM	600760
Desc
Variant	0014
Related	also

ClinVar
Risk	rs137852712(G;G)
Alt	rs137852712(G;G)
Reference	Rs137852712(A;A)
Significance	Pathogenic
Disease	Bronchiectasis with or without elevated sweat chloride 1
Variation	info
Gene	SCNN1B
CLNDBN	Bronchiectasis with or without elevated sweat chloride 1
Reversed	0
HGVS	NC_000016.9:g.23379263A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009391.3,