rs1057520304

Orientation

plus

Stabilized

plus

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

Make rs1057520304(-;-)

Make rs1057520304(-;T)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

48251661

Gene	LOC107984758, SLC12A1

is a	snp
is	mentioned by
dbSNP	rs1057520304
dbSNP (classic)	rs1057520304
ClinGen	rs1057520304
ebi	rs1057520304
HLI	rs1057520304
Exac	rs1057520304
Gnomad	rs1057520304
Varsome	rs1057520304
LitVar	rs1057520304
Map	rs1057520304
PheGenI	rs1057520304
Biobank	rs1057520304
1000 genomes	rs1057520304
hgdp	rs1057520304
ensembl	rs1057520304
geneview	rs1057520304
scholar	rs1057520304
google	rs1057520304
pharmgkb	rs1057520304
gwascentral	rs1057520304
openSNP	rs1057520304
23andMe	rs1057520304
SNPshot	rs1057520304
SNPdbe	rs1057520304
MSV3d	rs1057520304
GWAS Ctlg	rs1057520304

Max Magnitude

0

ClinVar
Risk	rs1057520304(-;-)
Alt	rs1057520304(-;-)
Reference	Rs1057520304(T;T)
Significance	Pathogenic
Disease	Bartter syndrome
Variation	info
Gene	SLC12A1
CLNDBN	Bartter syndrome, type 1, antenatal
Reversed	0
HGVS	NC_000015.9:g.48543858delT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000418206.1,