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rs193929360

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs193929360(C;C)
Make rs193929360(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position17474919
GeneABCC8
is asnp
is mentioned by
dbSNPrs193929360
ebirs193929360
HLIrs193929360
Exacrs193929360
Varsomers193929360
Maprs193929360
PheGenIrs193929360
hapmaprs193929360
1000 genomesrs193929360
hgdprs193929360
ensemblrs193929360
gopubmedrs193929360
geneviewrs193929360
scholarrs193929360
googlers193929360
pharmgkbrs193929360
gwascentralrs193929360
openSNPrs193929360
23andMers193929360
23andMe allrs193929360
SNP Nexus

SNPshotrs193929360
SNPdbers193929360
MSV3drs193929360
GWAS Ctlgrs193929360
Merged fromRs193929361
Max Magnitude0
ClinVar
Risk rs193929360(C,G;C,G)
Alt rs193929360(C,G;C,G)
Reference rs193929360(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.17496466A>C; NC_000011.9:g.17496466A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009681.2, RCV000020285.1,


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