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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
ebirs757110
HLIrs757110
Exacrs757110
Varsomers757110
Maprs757110
PheGenIrs757110
hapmaprs757110
1000 genomesrs757110
hgdprs757110
ensemblrs757110
gopubmedrs757110
geneviewrs757110
scholarrs757110
googlers757110
pharmgkbrs757110
gwascentralrs757110
openSNPrs757110
23andMers757110
23andMe allrs757110
SNP Nexus

SNPshotrs757110
SNPdbers757110
MSV3drs757110
GWAS Ctlgrs757110
GMAF0.2856
Max Magnitude0
? (G;G) (G;T) (T;T) 28


Venter snp
Source plos
Gene ABCC8
allele A
frequency 0.6
sift TOLERATED
HuRef 1103649619631
Disease Association Defects in ABCC8 may contribute to non-insulin-dependent diabetes mellitus (NIDDM), also known as type II diabetes mellitus, in Northern European Caucasians.



Neighborrs28936370
Distance50
[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.


GET Evidence
ABCC8-A1369S
aa_change Ala1369Ser
aa_change_short A1369S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.738706
summary



ClinVar
Risk rs757110(T;T)
Alt rs757110(T;T)
Reference rs757110(G;G)
Significance Probable-non-pathogenic
Disease not specified
Variation info
Gene ABCC8
CLNDBN not specified
Reversed 1
HGVS NC_000011.9:g.17418477C>A
CLNSRC ClinVar University of Chicago
CLNACC RCV000144996.1,