rs193929339

Merged into

rs80356613

Orientation

minus

Stabilized

minus

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

Make rs193929339(A;A)

Make rs193929339(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

17387935

Gene

KCNJ11

is a	snp
is	mentioned by
dbSNP	rs193929339
dbSNP (classic)	rs193929339
ClinGen	rs193929339
ebi	rs193929339
HLI	rs193929339
Exac	rs193929339
Gnomad	rs193929339
Varsome	rs193929339
LitVar	rs193929339
Map	rs193929339
PheGenI	rs193929339
Biobank	rs193929339
1000 genomes	rs193929339
hgdp	rs193929339
ensembl	rs193929339
geneview	rs193929339
scholar	rs193929339
google	rs193929339
pharmgkb	rs193929339
gwascentral	rs193929339
openSNP	rs193929339
23andMe	rs193929339
SNPshot	rs193929339
SNPdbe	rs193929339
MSV3d	rs193929339
GWAS Ctlg	rs193929339

Status

Merged into rs80356613

Max Magnitude

0

ClinVar
Risk	rs193929339(A;A)
Alt	rs193929339(A;A)
Reference	Rs193929339(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>T
CLNSRC	OMIM Allelic Variant GeneReviews
CLNACC	SCV000029436.1, SCV000029436.1, SCV000040726.1, SCV000040726.1,

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