rs74315287

Orientation

plus

Stabilized

plus

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

Make rs74315287(A;A)

Make rs74315287(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

54999214

Gene

BSND

is a	snp
is	mentioned by
dbSNP	rs74315287
dbSNP (classic)	rs74315287
ClinGen	rs74315287
ebi	rs74315287
HLI	rs74315287
Exac	rs74315287
Gnomad	rs74315287
Varsome	rs74315287
LitVar	rs74315287
Map	rs74315287
PheGenI	rs74315287
Biobank	rs74315287
1000 genomes	rs74315287
hgdp	rs74315287
ensembl	rs74315287
geneview	rs74315287
scholar	rs74315287
google	rs74315287
pharmgkb	rs74315287
gwascentral	rs74315287
openSNP	rs74315287
23andMe	rs74315287
SNPshot	rs74315287
SNPdbe	rs74315287
MSV3d	rs74315287
GWAS Ctlg	rs74315287

Max Magnitude

0

OMIM	606412
Desc
Variant	0006
Related	also

ClinVar
Risk	rs74315287(A;A)
Alt	rs74315287(A;A)
Reference	Rs74315287(G;G)
Significance	Pathogenic
Disease	Bartter syndrome type 4
Variation	info
Gene	BSND
CLNDBN	Bartter syndrome type 4
Reversed	0
HGVS	NC_000001.10:g.55464887G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004635.3,