rs193922407

Orientation

minus

Stabilized

minus

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

Make rs193922407(A;A)

Make rs193922407(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

17393741

Gene

ABCC8

is a	snp
is	mentioned by
dbSNP	rs193922407
dbSNP (classic)	rs193922407
ClinGen	rs193922407
ebi	rs193922407
HLI	rs193922407
Exac	rs193922407
Gnomad	rs193922407
Varsome	rs193922407
LitVar	rs193922407
Map	rs193922407
PheGenI	rs193922407
Biobank	rs193922407
1000 genomes	rs193922407
hgdp	rs193922407
ensembl	rs193922407
geneview	rs193922407
scholar	rs193922407
google	rs193922407
pharmgkb	rs193922407
gwascentral	rs193922407
openSNP	rs193922407
23andMe	rs193922407
SNPshot	rs193922407
SNPdbe	rs193922407
MSV3d	rs193922407
GWAS Ctlg	rs193922407

Max Magnitude

0

ClinVar
Risk	rs193922407(A;A)
Alt	rs193922407(A;A)
Reference	Rs193922407(G;G)
Significance	Probable-Pathogenic
Disease	Neonatal diabetes mellitus
Variation	info
Gene	ABCC8
CLNDBN	Neonatal diabetes mellitus
Reversed	1
HGVS	NC_000011.9:g.17415288C>T
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029269.1,

[PMID 17389331] New ABCC8 mutations in relapsing neonatal diabetes and clinical features.

[PMID 18436707] Neonatal diabetes mellitus.