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rs193929363

From SNPedia

Merged intors80356637
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs193929363(C;C)
Make rs193929363(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position17470119
GeneABCC8
is asnp
is mentioned by
dbSNPrs193929363
ebirs193929363
HLIrs193929363
Exacrs193929363
Varsomers193929363
Maprs193929363
PheGenIrs193929363
hapmaprs193929363
1000 genomesrs193929363
hgdprs193929363
ensemblrs193929363
gopubmedrs193929363
geneviewrs193929363
scholarrs193929363
googlers193929363
pharmgkbrs193929363
gwascentralrs193929363
openSNPrs193929363
23andMers193929363
23andMe allrs193929363
SNP Nexus

SNPshotrs193929363
SNPdbers193929363
MSV3drs193929363
GWAS Ctlgrs193929363
StatusMerged into rs80356637
Max Magnitude0
ClinVar
Risk rs193929363(C;C)
Alt rs193929363(C;C)
Reference rs193929363(T;T)
Significance Pathogenic
Disease Permanent neonatal diabetes mellitus
Variation info
Gene
CLNDBN Permanent neonatal diabetes mellitus
Reversed 1
HGVS NC_000011.9:g.17491666A>G
CLNSRC GeneReviews
CLNACC SCV000040645.1, SCV000040645.1,


[PMID 16613899] A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.