rs104894254

Orientation

minus

Stabilized

minus

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

Make rs104894254(A;A)

Make rs104894254(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

128839801

Gene

KCNJ1

is a	snp
is	mentioned by
dbSNP	rs104894254
dbSNP (classic)	rs104894254
ClinGen	rs104894254
ebi	rs104894254
HLI	rs104894254
Exac	rs104894254
Gnomad	rs104894254
Varsome	rs104894254
LitVar	rs104894254
Map	rs104894254
PheGenI	rs104894254
Biobank	rs104894254
1000 genomes	rs104894254
hgdp	rs104894254
ensembl	rs104894254
geneview	rs104894254
scholar	rs104894254
google	rs104894254
pharmgkb	rs104894254
gwascentral	rs104894254
openSNP	rs104894254
23andMe	rs104894254
SNPshot	rs104894254
SNPdbe	rs104894254
MSV3d	rs104894254
GWAS Ctlg	rs104894254

Max Magnitude

0

OMIM	600359
Desc
Variant	0008
Related	also

ClinVar
Risk	rs104894254(A;A)
Alt	rs104894254(A;A)
Reference	Rs104894254(G;G)
Significance	Pathogenic
Disease	Bartter syndrome
Variation	info
Gene	KCNJ1
CLNDBN	Bartter syndrome, type 2, antenatal
Reversed	1
HGVS	NC_000011.9:g.128709696C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009730.2,