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rs267606623

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267606623(C;T)
Make rs267606623(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position17476643
GeneABCC8
is asnp
is mentioned by
dbSNPrs267606623
dbSNP (classic)rs267606623
ClinGenrs267606623
ebirs267606623
HLIrs267606623
Exacrs267606623
Gnomadrs267606623
Varsomers267606623
LitVarrs267606623
Maprs267606623
PheGenIrs267606623
Biobankrs267606623
1000 genomesrs267606623
hgdprs267606623
ensemblrs267606623
geneviewrs267606623
scholarrs267606623
googlers267606623
pharmgkbrs267606623
gwascentralrs267606623
openSNPrs267606623
23andMers267606623
SNPshotrs267606623
SNPdbers267606623
MSV3drs267606623
GWAS Ctlgrs267606623
Max Magnitude0
ClinVar
Risk rs267606623(T;T)
Alt rs267606623(T;T)
Reference Rs267606623(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.17498190G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000009680.3,