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rs193929366

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193929366(A;A)
Make rs193929366(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position17461774
GeneABCC8
is asnp
is mentioned by
dbSNPrs193929366
ebirs193929366
HLIrs193929366
Exacrs193929366
Varsomers193929366
Maprs193929366
PheGenIrs193929366
hapmaprs193929366
1000 genomesrs193929366
hgdprs193929366
ensemblrs193929366
gopubmedrs193929366
geneviewrs193929366
scholarrs193929366
googlers193929366
pharmgkbrs193929366
gwascentralrs193929366
openSNPrs193929366
23andMers193929366
23andMe allrs193929366
SNP Nexus

SNPshotrs193929366
SNPdbers193929366
MSV3drs193929366
GWAS Ctlgrs193929366
Max Magnitude0
ClinVar
Risk rs193929366(A;A)
Alt rs193929366(A;A)
Reference rs193929366(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.17483321G>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020290.1,


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