rs193922405

Orientation

minus

Stabilized

minus

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

Make rs193922405(A;A)

Make rs193922405(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

17394360

Gene

ABCC8

is a	snp
is	mentioned by
dbSNP	rs193922405
dbSNP (classic)	rs193922405
ClinGen	rs193922405
ebi	rs193922405
HLI	rs193922405
Exac	rs193922405
Gnomad	rs193922405
Varsome	rs193922405
LitVar	rs193922405
Map	rs193922405
PheGenI	rs193922405
Biobank	rs193922405
1000 genomes	rs193922405
hgdp	rs193922405
ensembl	rs193922405
geneview	rs193922405
scholar	rs193922405
google	rs193922405
pharmgkb	rs193922405
gwascentral	rs193922405
openSNP	rs193922405
23andMe	rs193922405
SNPshot	rs193922405
SNPdbe	rs193922405
MSV3d	rs193922405
GWAS Ctlg	rs193922405

Max Magnitude

0

ClinVar
Risk	rs193922405(A;A)
Alt	rs193922405(A;A)
Reference	Rs193922405(G;G)
Significance	Probable-Pathogenic
Disease	Persistent hyperinsulinemic hypoglycemia of infancy
Variation	info
Gene	ABCC8
CLNDBN	Persistent hyperinsulinemic hypoglycemia of infancy
Reversed	1
HGVS	NC_000011.9:g.17415907C>T
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029267.1,

[PMID 20573158] Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia.