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rs193922402

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922402(C;T)
Make rs193922402(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position17395611
GeneABCC8
is asnp
is mentioned by
dbSNPrs193922402
ebirs193922402
HLIrs193922402
Exacrs193922402
Varsomers193922402
Maprs193922402
PheGenIrs193922402
hapmaprs193922402
1000 genomesrs193922402
hgdprs193922402
ensemblrs193922402
gopubmedrs193922402
geneviewrs193922402
scholarrs193922402
googlers193922402
pharmgkbrs193922402
gwascentralrs193922402
openSNPrs193922402
23andMers193922402
23andMe allrs193922402
SNP Nexus

SNPshotrs193922402
SNPdbers193922402
MSV3drs193922402
GWAS Ctlgrs193922402
Max Magnitude0
ClinVar
Risk rs193922402(T;T)
Alt rs193922402(T;T)
Reference rs193922402(C;C)
Significance Pathogenic
Disease Familial hyperinsulinism Persistent hyperinsulinemic hypoglycemia of infancy
Variation info
Gene ABCC8
CLNDBN Familial hyperinsulinism Persistent hyperinsulinemic hypoglycemia of infancy
Reversed 1
HGVS NC_000011.9:g.17417158G>A
CLNSRC Counsyl
CLNACC RCV000029264.1, RCV000169593.1,


[PMID 9642650] Ions and genes in persistent hyperinsulinaemic hypoglycaemia in infancy: a commentary on the implications for tailoring treatment to disease pathogenesis.