rs193929348

Orientation

minus

Stabilized

minus

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

Make rs193929348(A;G)

Make rs193929348(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

17387548

Gene

KCNJ11

is a	snp
is	mentioned by
dbSNP	rs193929348
dbSNP (classic)	rs193929348
ClinGen	rs193929348
ebi	rs193929348
HLI	rs193929348
Exac	rs193929348
Gnomad	rs193929348
Varsome	rs193929348
LitVar	rs193929348
Map	rs193929348
PheGenI	rs193929348
Biobank	rs193929348
1000 genomes	rs193929348
hgdp	rs193929348
ensembl	rs193929348
geneview	rs193929348
scholar	rs193929348
google	rs193929348
pharmgkb	rs193929348
gwascentral	rs193929348
openSNP	rs193929348
23andMe	rs193929348
SNPshot	rs193929348
SNPdbe	rs193929348
MSV3d	rs193929348
GWAS Ctlg	rs193929348

Max Magnitude

0

ClinVar
Risk	rs193929348(G;G)
Alt	rs193929348(G;G)
Reference	Rs193929348(A;A)
Significance	Pathogenic
Disease	Permanent neonatal diabetes mellitus
Variation	info
Gene	KCNJ11
CLNDBN	Permanent neonatal diabetes mellitus
Reversed	1
HGVS	NC_000011.9:g.17409095T>C
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020354.1,