rs1057520301

Orientation

plus

Stabilized

plus

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

Make rs1057520301(A;A)

Make rs1057520301(A;C)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

48251711

Gene	LOC107984758, SLC12A1

is a	snp
is	mentioned by
dbSNP	rs1057520301
dbSNP (classic)	rs1057520301
ClinGen	rs1057520301
ebi	rs1057520301
HLI	rs1057520301
Exac	rs1057520301
Gnomad	rs1057520301
Varsome	rs1057520301
LitVar	rs1057520301
Map	rs1057520301
PheGenI	rs1057520301
Biobank	rs1057520301
1000 genomes	rs1057520301
hgdp	rs1057520301
ensembl	rs1057520301
geneview	rs1057520301
scholar	rs1057520301
google	rs1057520301
pharmgkb	rs1057520301
gwascentral	rs1057520301
openSNP	rs1057520301
23andMe	rs1057520301
SNPshot	rs1057520301
SNPdbe	rs1057520301
MSV3d	rs1057520301
GWAS Ctlg	rs1057520301

Max Magnitude

0

ClinVar
Risk	rs1057520301(A;A)
Alt	rs1057520301(A;A)
Reference	Rs1057520301(C;C)
Significance	Pathogenic
Disease	Bartter syndrome
Variation	info
Gene	SLC12A1
CLNDBN	Bartter syndrome, type 1, antenatal
Reversed	0
HGVS	NC_000015.9:g.48543908C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000420163.1,