rs28936387

Orientation

plus

Stabilized

plus

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

Make rs28936387(C;C)

Make rs28936387(C;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

56879153

Gene

SLC12A3

is a	snp
is	mentioned by
dbSNP	rs28936387
dbSNP (classic)	rs28936387
ClinGen	rs28936387
ebi	rs28936387
HLI	rs28936387
Exac	rs28936387
Gnomad	rs28936387
Varsome	rs28936387
LitVar	rs28936387
Map	rs28936387
PheGenI	rs28936387
Biobank	rs28936387
1000 genomes	rs28936387
hgdp	rs28936387
ensembl	rs28936387
geneview	rs28936387
scholar	rs28936387
google	rs28936387
pharmgkb	rs28936387
gwascentral	rs28936387
openSNP	rs28936387
23andMe	rs28936387
SNPshot	rs28936387
SNPdbe	rs28936387
MSV3d	rs28936387
GWAS Ctlg	rs28936387

Max Magnitude

0

OMIM	600968
Desc	GITELMAN SYNDROME
Variant	0002
Related	also

ClinVar
Risk	rs28936387(C;C)
Alt	rs28936387(C;C)
Reference	Rs28936387(T;T)
Significance	Pathogenic
Disease	Familial hypokalemia-hypomagnesemia
Variation	info
Gene	SLC12A3
CLNDBN	Familial hypokalemia-hypomagnesemia
Reversed	0
HGVS	NC_000016.9:g.56913065T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009116.3,