rs193929336

Merged into

rs80356611

Orientation

minus

Stabilized

minus

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

Make rs193929336(C;C)

Make rs193929336(C;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

17387943

Gene

KCNJ11

is a	snp
is	mentioned by
dbSNP	rs193929336
dbSNP (classic)	rs193929336
ClinGen	rs193929336
ebi	rs193929336
HLI	rs193929336
Exac	rs193929336
Gnomad	rs193929336
Varsome	rs193929336
LitVar	rs193929336
Map	rs193929336
PheGenI	rs193929336
Biobank	rs193929336
1000 genomes	rs193929336
hgdp	rs193929336
ensembl	rs193929336
geneview	rs193929336
scholar	rs193929336
google	rs193929336
pharmgkb	rs193929336
gwascentral	rs193929336
openSNP	rs193929336
23andMe	rs193929336
SNPshot	rs193929336
SNPdbe	rs193929336
MSV3d	rs193929336
GWAS Ctlg	rs193929336

Status

Merged into rs80356611

Max Magnitude

0

ClinVar
Risk	rs193929336(C;C)
Alt	rs193929336(C;C)
Reference	Rs193929336(G;G)
Significance	Pathogenic
Disease	Permanent neonatal diabetes mellitus
Variation	info
Gene
CLNDBN	Permanent neonatal diabetes mellitus
Reversed	1
HGVS	NC_000011.9:g.17409490C>G
CLNSRC	OMIM Allelic Variant GeneReviews
CLNACC	SCV000029423.1, SCV000040724.1,

[PMID 15580558] KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.