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

rs193929369

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193929369(A;A)
Make rs193929369(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position17404515
GeneABCC8
is asnp
is mentioned by
dbSNPrs193929369
ebirs193929369
HLIrs193929369
Exacrs193929369
Varsomers193929369
Maprs193929369
PheGenIrs193929369
hapmaprs193929369
1000 genomesrs193929369
hgdprs193929369
ensemblrs193929369
gopubmedrs193929369
geneviewrs193929369
scholarrs193929369
googlers193929369
pharmgkbrs193929369
gwascentralrs193929369
openSNPrs193929369
23andMers193929369
23andMe allrs193929369
SNP Nexus

SNPshotrs193929369
SNPdbers193929369
MSV3drs193929369
GWAS Ctlgrs193929369
Max Magnitude0
ClinVar
Risk rs193929369(A;A)
Alt rs193929369(A;A)
Reference rs193929369(C;C)
Significance Pathogenic
Disease Permanent neonatal diabetes mellitus
Variation info
Gene ABCC8
CLNDBN Permanent neonatal diabetes mellitus
Reversed 1
HGVS NC_000011.9:g.17426062G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009679.2,


[PMID 17668386OA-icon.png] Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects.