rs193929338

Merged into

rs80356613

Orientation

minus

Stabilized

minus

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

Make rs193929338(C;C)

Make rs193929338(C;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

17387935

Gene

KCNJ11

is a	snp
is	mentioned by
dbSNP	rs193929338
dbSNP (classic)	rs193929338
ClinGen	rs193929338
ebi	rs193929338
HLI	rs193929338
Exac	rs193929338
Gnomad	rs193929338
Varsome	rs193929338
LitVar	rs193929338
Map	rs193929338
PheGenI	rs193929338
Biobank	rs193929338
1000 genomes	rs193929338
hgdp	rs193929338
ensembl	rs193929338
geneview	rs193929338
scholar	rs193929338
google	rs193929338
pharmgkb	rs193929338
gwascentral	rs193929338
openSNP	rs193929338
23andMe	rs193929338
SNPshot	rs193929338
SNPdbe	rs193929338
MSV3d	rs193929338
GWAS Ctlg	rs193929338

Status

Merged into rs80356613

Max Magnitude

0

ClinVar
Risk	rs193929338(C;C)
Alt	rs193929338(C;C)
Reference	Rs193929338(G;G)
Significance	Pathogenic
Disease	Transient neonatal diabetes mellitus 3
Variation	info
Gene
CLNDBN	Transient neonatal diabetes mellitus 3
Reversed	1
HGVS	NC_000011.9:g.17409482C>G
CLNSRC	OMIM Allelic Variant GeneReviews
CLNACC	SCV000029437.1, SCV000029437.1, SCV000040727.1, SCV000040727.1,

[PMID 15718250] Relapsing diabetes can result from moderately activating mutations in KCNJ11.