rs1057520300

Orientation

plus

Stabilized

plus

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

Make rs1057520300(-;-)

Make rs1057520300(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

48234926

Gene

SLC12A1

is a	snp
is	mentioned by
dbSNP	rs1057520300
dbSNP (classic)	rs1057520300
ClinGen	rs1057520300
ebi	rs1057520300
HLI	rs1057520300
Exac	rs1057520300
Gnomad	rs1057520300
Varsome	rs1057520300
LitVar	rs1057520300
Map	rs1057520300
PheGenI	rs1057520300
Biobank	rs1057520300
1000 genomes	rs1057520300
hgdp	rs1057520300
ensembl	rs1057520300
geneview	rs1057520300
scholar	rs1057520300
google	rs1057520300
pharmgkb	rs1057520300
gwascentral	rs1057520300
openSNP	rs1057520300
23andMe	rs1057520300
SNPshot	rs1057520300
SNPdbe	rs1057520300
MSV3d	rs1057520300
GWAS Ctlg	rs1057520300

Max Magnitude

0

ClinVar
Risk	rs1057520300(-;-)
Alt	rs1057520300(-;-)
Reference	Rs1057520300(C;C)
Significance	Pathogenic
Disease	Bartter syndrome
Variation	info
Gene	SLC12A1
CLNDBN	Bartter syndrome, type 1, antenatal
Reversed	0
HGVS	NC_000015.9:g.48527123delC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000427573.1,