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rs1048095

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;T) 4 Reported to be associated with permanent neonatal diabetes mellitus
(T;T) 0 common in clinvar


Make rs1048095(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position17461731
GeneABCC8
is asnp
is mentioned by
dbSNPrs1048095
ebirs1048095
HLIrs1048095
Exacrs1048095
Varsomers1048095
Maprs1048095
PheGenIrs1048095
hapmaprs1048095
1000 genomesrs1048095
hgdprs1048095
ensemblrs1048095
gopubmedrs1048095
geneviewrs1048095
scholarrs1048095
googlers1048095
pharmgkbrs1048095
gwascentralrs1048095
openSNPrs1048095
23andMers1048095
23andMe allrs1048095
SNP Nexus

SNPshotrs1048095
SNPdbers1048095
MSV3drs1048095
GWAS Ctlgrs1048095
Max Magnitude4

rs1048095, also known as L225P, Leu225Pro and 674T>C, is a rare variant in the ATP-binding cassette, sub-family C (CFTR/MRP), member 8 ABCC8 gene.

Heterozygous carriers for this SNP are reported to have permanent neonatal diabetes mellitus (PNDM). It was also reported that patients have been successfully treated with oral sulfonylureas.[PMID 17317760]

? (C;C) (C;T) (T;T) 28
ClinVar
Risk rs1048095(C;C)
Alt rs1048095(C;C)
Reference rs1048095(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.17483278A>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000020291.1,



[PMID 16885549] Activating mutations in the ABCC8 gene in neonatal diabetes mellitus.

OMIM606176
Desc
Variant
Relatedalso