Have questions? Visit https://www.reddit.com/r/SNPedia

rs193922405

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922405(A;A)
Make rs193922405(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position17394360
GeneABCC8
is asnp
is mentioned by
dbSNPrs193922405
ebirs193922405
HLIrs193922405
Exacrs193922405
Varsomers193922405
Maprs193922405
PheGenIrs193922405
hapmaprs193922405
1000 genomesrs193922405
hgdprs193922405
ensemblrs193922405
gopubmedrs193922405
geneviewrs193922405
scholarrs193922405
googlers193922405
pharmgkbrs193922405
gwascentralrs193922405
openSNPrs193922405
23andMers193922405
23andMe allrs193922405
SNP Nexus

SNPshotrs193922405
SNPdbers193922405
MSV3drs193922405
GWAS Ctlgrs193922405
Max Magnitude0
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 20573158OA-icon.png] Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia.