rs138977195

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	4.5	Familial hypokalemia-hypomagnesemia (Gitelman syndrome)
(A;G)	3	Carrier of a mutation for familial hypokalemia-hypomagnesemia
(G;G)	0	common/normal

Reference

GRCh38.p7 38.3/149

Chromosome

16

Position

56887967

Gene

SLC12A3

is a	snp
is	mentioned by
dbSNP	rs138977195
dbSNP (classic)	rs138977195
ClinGen	rs138977195
ebi	rs138977195
HLI	rs138977195
Exac	rs138977195
Gnomad	rs138977195
Varsome	rs138977195
LitVar	rs138977195
Map	rs138977195
PheGenI	rs138977195
Biobank	rs138977195
1000 genomes	rs138977195
hgdp	rs138977195
ensembl	rs138977195
geneview	rs138977195
scholar	rs138977195
google	rs138977195
pharmgkb	rs138977195
gwascentral	rs138977195
openSNP	rs138977195
23andMe	rs138977195
SNPshot	rs138977195
SNPdbe	rs138977195
MSV3d	rs138977195
GWAS Ctlg	rs138977195

Max Magnitude

4.5

SLC12A3 gene, c.2221G>A (p.Gly741Arg)

Minor allele is pathogenic for Familial hypokalemia-hypomagnesemia (Gitelman syndrome); recessively inherited

ClinVar
Risk	Rs138977195(A;A)
Alt	Rs138977195(A;A)
Reference	Rs138977195(G;G)
Significance	Other
Disease	Familial hypokalemia-hypomagnesemia not provided
Variation	info
Gene	SLC12A3
CLNDBN	Familial hypokalemia-hypomagnesemia not provided
Reversed	0
HGVS	NC_000016.9:g.56921879G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000190624.2, RCV000255367.1,