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rs193929361

From SNPedia

Merged intors193929360
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs193929361(G;G)
Make rs193929361(G;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position17474919
GeneABCC8
is asnp
is mentioned by
dbSNPrs193929361
ebirs193929361
HLIrs193929361
Exacrs193929361
Varsomers193929361
Maprs193929361
PheGenIrs193929361
hapmaprs193929361
1000 genomesrs193929361
hgdprs193929361
ensemblrs193929361
gopubmedrs193929361
geneviewrs193929361
scholarrs193929361
googlers193929361
pharmgkbrs193929361
gwascentralrs193929361
openSNPrs193929361
23andMers193929361
23andMe allrs193929361
SNP Nexus

SNPshotrs193929361
SNPdbers193929361
MSV3drs193929361
GWAS Ctlgrs193929361
StatusMerged into rs193929360
Max Magnitude0
ClinVar
Risk rs193929361(G;G)
Alt rs193929361(G;G)
Reference rs193929361(T;T)
Significance Pathogenic
Disease Permanent neonatal diabetes mellitus
Variation info
Gene
CLNDBN Permanent neonatal diabetes mellitus
Reversed 1
HGVS NC_000011.9:g.17496466A>C
CLNSRC OMIM Allelic Variant GeneReviews
CLNACC SCV000029899.1, SCV000040643.1,


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