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rs757110

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs757110(G;T)
Make rs757110(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position17396930
GeneABCC8
is asnp
is mentioned by
dbSNPrs757110
dbSNP (classic)rs757110
ClinGenrs757110
ebirs757110
HLIrs757110
Exacrs757110
Gnomadrs757110
Varsomers757110
LitVarrs757110
Maprs757110
PheGenIrs757110
Biobankrs757110
1000 genomesrs757110
hgdprs757110
ensemblrs757110
geneviewrs757110
scholarrs757110
googlers757110
pharmgkbrs757110
gwascentralrs757110
openSNPrs757110
23andMers757110
SNPshotrs757110
SNPdbers757110
MSV3drs757110
GWAS Ctlgrs757110
GMAF0.2856
Max Magnitude0
? (G;G) (G;T) (T;T) 28



[PMID 16642433OA-icon.png] Polymorphism in maternal LRP8 gene is associated with fetal growth.


[PMID 17903298OA-icon.png] Genome-wide association with diabetes-related traits in the Framingham Heart Study.


[PMID 18599530OA-icon.png] Ser1369Ala variant in sulfonylurea receptor gene ABCC8 is associated with antidiabetic efficacy of gliclazide in Chinese type 2 diabetic patients.


[PMID 19641380OA-icon.png] Candidate gene polymorphisms for diabetes mellitus, cardiovascular disease and cancer are associated with longevity in Koreans.


ClinVar
Risk rs757110(A;A) rs757110(T;T)
Alt rs757110(A;A) rs757110(T;T)
Reference Rs757110(G;G)
Significance Other
Disease not specified Hyperinsulinism Transient Neonatal Diabetes Permanent neonatal diabetes mellitus
Variation info
Gene ABCC8
CLNDBN not specified Hyperinsulinism, Dominant/Recessive Transient Neonatal Diabetes, Dominant Permanent neonatal diabetes mellitus
Reversed 1
HGVS NC_000011.9:g.17418477C>A
CLNSRC UniProtKB (protein)
CLNACC RCV000144996.2, RCV000269263.1, RCV000326750.1, RCV000388290.1,



[PMID 32660410] Association between ABCC8 Ala1369Ser Polymorphism (rs757110 T/G) and Type 2 Diabetes risk in an Iranian population: A Case-Control Study.