rs28936388

Orientation

plus

Stabilized

plus

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

Make rs28936388(C;T)

Make rs28936388(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

56870119

Gene

SLC12A3

is a	snp
is	mentioned by
dbSNP	rs28936388
dbSNP (classic)	rs28936388
ClinGen	rs28936388
ebi	rs28936388
HLI	rs28936388
Exac	rs28936388
Gnomad	rs28936388
Varsome	rs28936388
LitVar	rs28936388
Map	rs28936388
PheGenI	rs28936388
Biobank	rs28936388
1000 genomes	rs28936388
hgdp	rs28936388
ensembl	rs28936388
geneview	rs28936388
scholar	rs28936388
google	rs28936388
pharmgkb	rs28936388
gwascentral	rs28936388
openSNP	rs28936388
23andMe	rs28936388
SNPshot	rs28936388
SNPdbe	rs28936388
MSV3d	rs28936388
GWAS Ctlg	rs28936388

Max Magnitude

0

OMIM	600968
Desc	GITELMAN SYNDROME
Variant	0003
Related	also

ClinVar
Risk	rs28936388(T;T)
Alt	rs28936388(T;T)
Reference	Rs28936388(C;C)
Significance	Pathogenic
Disease	Familial hypokalemia-hypomagnesemia
Variation	info
Gene	SLC12A3
CLNDBN	Familial hypokalemia-hypomagnesemia
Reversed	0
HGVS	NC_000016.9:g.56904031C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009117.2,