rs104894250

Orientation

minus

Stabilized

minus

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

Make rs104894250(C;C)

Make rs104894250(C;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

128839979

Gene

KCNJ1

is a	snp
is	mentioned by
dbSNP	rs104894250
dbSNP (classic)	rs104894250
ClinGen	rs104894250
ebi	rs104894250
HLI	rs104894250
Exac	rs104894250
Gnomad	rs104894250
Varsome	rs104894250
LitVar	rs104894250
Map	rs104894250
PheGenI	rs104894250
Biobank	rs104894250
1000 genomes	rs104894250
hgdp	rs104894250
ensembl	rs104894250
geneview	rs104894250
scholar	rs104894250
google	rs104894250
pharmgkb	rs104894250
gwascentral	rs104894250
openSNP	rs104894250
23andMe	rs104894250
SNPshot	rs104894250
SNPdbe	rs104894250
MSV3d	rs104894250
GWAS Ctlg	rs104894250

Max Magnitude

0

OMIM	600359
Desc
Variant	0009
Related	also

ClinVar
Risk	rs104894250(C;C)
Alt	rs104894250(C;C)
Reference	Rs104894250(G;G)
Significance	Pathogenic
Disease	Bartter syndrome
Variation	info
Gene	KCNJ1
CLNDBN	Bartter syndrome, type 2, antenatal
Reversed	1
HGVS	NC_000011.9:g.128709874C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009731.2,