rs104894253

Orientation

minus

Stabilized

minus

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

Make rs104894253(A;A)

Make rs104894253(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

128839709

Gene

KCNJ1

is a	snp
is	mentioned by
dbSNP	rs104894253
dbSNP (classic)	rs104894253
ClinGen	rs104894253
ebi	rs104894253
HLI	rs104894253
Exac	rs104894253
Gnomad	rs104894253
Varsome	rs104894253
LitVar	rs104894253
Map	rs104894253
PheGenI	rs104894253
Biobank	rs104894253
1000 genomes	rs104894253
hgdp	rs104894253
ensembl	rs104894253
geneview	rs104894253
scholar	rs104894253
google	rs104894253
pharmgkb	rs104894253
gwascentral	rs104894253
openSNP	rs104894253
23andMe	rs104894253
SNPshot	rs104894253
SNPdbe	rs104894253
MSV3d	rs104894253
GWAS Ctlg	rs104894253

Max Magnitude

0

OMIM	600359
Desc
Variant	0007
Related	also

ClinVar
Risk	rs104894253(A;A) rs104894253(T;T)
Alt	rs104894253(A;A) rs104894253(T;T)
Reference	Rs104894253(G;G)
Significance	Pathogenic
Disease	Bartter syndrome
Variation	info
Gene	KCNJ1
CLNDBN	Bartter syndrome, type 2, antenatal
Reversed	1
HGVS	NC_000011.9:g.128709604C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009729.4,