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rs193922407

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922407(A;A)
Make rs193922407(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position17393741
GeneABCC8
is asnp
is mentioned by
dbSNPrs193922407
ebirs193922407
HLIrs193922407
Exacrs193922407
Varsomers193922407
Maprs193922407
PheGenIrs193922407
hapmaprs193922407
1000 genomesrs193922407
hgdprs193922407
ensemblrs193922407
gopubmedrs193922407
geneviewrs193922407
scholarrs193922407
googlers193922407
pharmgkbrs193922407
gwascentralrs193922407
openSNPrs193922407
23andMers193922407
23andMe allrs193922407
SNP Nexus

SNPshotrs193922407
SNPdbers193922407
MSV3drs193922407
GWAS Ctlgrs193922407
Max Magnitude0
ClinVar
Risk rs193922407(A;A)
Alt rs193922407(A;A)
Reference rs193922407(G;G)
Significance Probable-Pathogenic
Disease Neonatal diabetes mellitus
Variation info
Gene ABCC8
CLNDBN Neonatal diabetes mellitus
Reversed 1
HGVS NC_000011.9:g.17415288C>T
CLNSRC ClinVar LabCorp
CLNACC RCV000029269.1,


[PMID 17389331] New ABCC8 mutations in relapsing neonatal diabetes and clinical features.


[PMID 18436707OA-icon.png] Neonatal diabetes mellitus.