rs74315285

Orientation

plus

Stabilized

plus

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

Make rs74315285(C;T)

Make rs74315285(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

54999208

Gene

BSND

is a	snp
is	mentioned by
dbSNP	rs74315285
dbSNP (classic)	rs74315285
ClinGen	rs74315285
ebi	rs74315285
HLI	rs74315285
Exac	rs74315285
Gnomad	rs74315285
Varsome	rs74315285
LitVar	rs74315285
Map	rs74315285
PheGenI	rs74315285
Biobank	rs74315285
1000 genomes	rs74315285
hgdp	rs74315285
ensembl	rs74315285
geneview	rs74315285
scholar	rs74315285
google	rs74315285
pharmgkb	rs74315285
gwascentral	rs74315285
openSNP	rs74315285
23andMe	rs74315285
SNPshot	rs74315285
SNPdbe	rs74315285
MSV3d	rs74315285
GWAS Ctlg	rs74315285

GMAF

0.0004591

Max Magnitude

0

OMIM	606412
Desc
Variant	0002
Related	also

ClinVar
Risk	rs74315285(T;T)
Alt	rs74315285(T;T)
Reference	Rs74315285(C;C)
Significance	Pathogenic
Disease	Bartter syndrome type 4
Variation	info
Gene	BSND
CLNDBN	Bartter syndrome type 4
Reversed	0
HGVS	NC_000001.10:g.55464881C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004631.3,