rs104894246

Orientation

minus

Stabilized

minus

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

Make rs104894246(C;T)

Make rs104894246(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

128839660

Gene

KCNJ1

is a	snp
is	mentioned by
dbSNP	rs104894246
dbSNP (classic)	rs104894246
ClinGen	rs104894246
ebi	rs104894246
HLI	rs104894246
Exac	rs104894246
Gnomad	rs104894246
Varsome	rs104894246
LitVar	rs104894246
Map	rs104894246
PheGenI	rs104894246
Biobank	rs104894246
1000 genomes	rs104894246
hgdp	rs104894246
ensembl	rs104894246
geneview	rs104894246
scholar	rs104894246
google	rs104894246
pharmgkb	rs104894246
gwascentral	rs104894246
openSNP	rs104894246
23andMe	rs104894246
SNPshot	rs104894246
SNPdbe	rs104894246
MSV3d	rs104894246
GWAS Ctlg	rs104894246

Max Magnitude

0

OMIM	600359
Desc
Variant	0005
Related	also

ClinVar
Risk	rs104894246(G;G) rs104894246(T;T)
Alt	rs104894246(G;G) rs104894246(T;T)
Reference	Rs104894246(C;C)
Significance	Pathogenic
Disease	Bartter syndrome
Variation	info
Gene	KCNJ1
CLNDBN	Bartter syndrome, type 2, antenatal
Reversed	1
HGVS	NC_000011.9:g.128709555G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009727.2,