rs104894251

Orientation

minus

Stabilized

minus

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

Make rs104894251(A;A)

Make rs104894251(A;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

128839929

Gene

KCNJ1

is a	snp
is	mentioned by
dbSNP	rs104894251
dbSNP (classic)	rs104894251
ClinGen	rs104894251
ebi	rs104894251
HLI	rs104894251
Exac	rs104894251
Gnomad	rs104894251
Varsome	rs104894251
LitVar	rs104894251
Map	rs104894251
PheGenI	rs104894251
Biobank	rs104894251
1000 genomes	rs104894251
hgdp	rs104894251
ensembl	rs104894251
geneview	rs104894251
scholar	rs104894251
google	rs104894251
pharmgkb	rs104894251
gwascentral	rs104894251
openSNP	rs104894251
23andMe	rs104894251
SNPshot	rs104894251
SNPdbe	rs104894251
MSV3d	rs104894251
GWAS Ctlg	rs104894251

Max Magnitude

0

OMIM	600359
Desc
Variant	0010
Related	also

ClinVar
Risk	rs104894251(A;A) rs104894251(C;C)
Alt	rs104894251(A;A) rs104894251(C;C)
Reference	Rs104894251(T;T)
Significance	Pathogenic
Disease	Bartter syndrome
Variation	info
Gene	KCNJ1
CLNDBN	Bartter syndrome, type 2, antenatal
Reversed	1
HGVS	NC_000011.9:g.128709824A>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009732.2,