rs104894244

Orientation

minus

Stabilized

minus

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

Make rs104894244(C;G)

Make rs104894244(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

128840064

Gene

KCNJ1

is a	snp
is	mentioned by
dbSNP	rs104894244
dbSNP (classic)	rs104894244
ClinGen	rs104894244
ebi	rs104894244
HLI	rs104894244
Exac	rs104894244
Gnomad	rs104894244
Varsome	rs104894244
LitVar	rs104894244
Map	rs104894244
PheGenI	rs104894244
Biobank	rs104894244
1000 genomes	rs104894244
hgdp	rs104894244
ensembl	rs104894244
geneview	rs104894244
scholar	rs104894244
google	rs104894244
pharmgkb	rs104894244
gwascentral	rs104894244
openSNP	rs104894244
23andMe	rs104894244
SNPshot	rs104894244
SNPdbe	rs104894244
MSV3d	rs104894244
GWAS Ctlg	rs104894244

Max Magnitude

0

OMIM	600359
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104894244(G;G) rs104894244(T;T)
Alt	rs104894244(G;G) rs104894244(T;T)
Reference	Rs104894244(C;C)
Significance	Pathogenic
Disease	not provided Bartter syndrome
Variation	info
Gene	KCNJ1
CLNDBN	not provided Bartter syndrome, type 2, antenatal
Reversed	1
HGVS	NC_000011.9:g.128709959G>A; NC_000011.9:g.128709959G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000423731.1, RCV000009723.2,