rs193929353

Orientation

minus

Stabilized

minus

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

Make rs193929353(A;C)

Make rs193929353(C;C)

Reference

GRCh38 38.1/141

Chromosome

11

Position

17387206

Gene

KCNJ11

is a	snp
is	mentioned by
dbSNP	rs193929353
dbSNP (classic)	rs193929353
ClinGen	rs193929353
ebi	rs193929353
HLI	rs193929353
Exac	rs193929353
Gnomad	rs193929353
Varsome	rs193929353
LitVar	rs193929353
Map	rs193929353
PheGenI	rs193929353
Biobank	rs193929353
1000 genomes	rs193929353
hgdp	rs193929353
ensembl	rs193929353
geneview	rs193929353
scholar	rs193929353
google	rs193929353
pharmgkb	rs193929353
gwascentral	rs193929353
openSNP	rs193929353
23andMe	rs193929353
SNPshot	rs193929353
SNPdbe	rs193929353
MSV3d	rs193929353
GWAS Ctlg	rs193929353

Max Magnitude

0

ClinVar
Risk	rs193929353(C;C) rs193929353(G;G)
Alt	rs193929353(C;C) rs193929353(G;G)
Reference	Rs193929353(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.17408753T>C; NC_000011.9:g.17408753T>G
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020359.1, RCV000020358.1,