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rs193929364

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs193929364(C;C)
Make rs193929364(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position17470109
GeneABCC8
is asnp
is mentioned by
dbSNPrs193929364
ebirs193929364
HLIrs193929364
Exacrs193929364
Varsomers193929364
Maprs193929364
PheGenIrs193929364
hapmaprs193929364
1000 genomesrs193929364
hgdprs193929364
ensemblrs193929364
gopubmedrs193929364
geneviewrs193929364
scholarrs193929364
googlers193929364
pharmgkbrs193929364
gwascentralrs193929364
openSNPrs193929364
23andMers193929364
23andMe allrs193929364
SNP Nexus

SNPshotrs193929364
SNPdbers193929364
MSV3drs193929364
GWAS Ctlgrs193929364
Max Magnitude0
ClinVar
Risk rs193929364(C;C)
Alt rs193929364(C;C)
Reference rs193929364(T;T)
Significance Pathogenic
Disease Permanent neonatal diabetes mellitus
Variation info
Gene ABCC8
CLNDBN Permanent neonatal diabetes mellitus
Reversed 1
HGVS NC_000011.9:g.17491656A>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000020288.1,


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