Have questions? Visit https://www.reddit.com/r/SNPedia

rs1801262

From SNPedia

Orientationminus
Stabilizedplus
Make rs1801262(A;A)
Make rs1801262(A;G)
Make rs1801262(G;G)
ReferenceGRCh38 38.1/142
Chromosome2
Position181678728
GeneNEUROD1
is asnp
is mentioned by
dbSNPrs1801262
ebirs1801262
HLIrs1801262
Exacrs1801262
Varsomers1801262
Maprs1801262
PheGenIrs1801262
hapmaprs1801262
1000 genomesrs1801262
hgdprs1801262
ensemblrs1801262
gopubmedrs1801262
geneviewrs1801262
scholarrs1801262
googlers1801262
pharmgkbrs1801262
gwascentralrs1801262
openSNPrs1801262
23andMers1801262
23andMe allrs1801262
SNP Nexus

SNPshotrs1801262
SNPdbers1801262
MSV3drs1801262
GWAS Ctlgrs1801262
GMAF0.2658
Max Magnitude
? (A;A) (A;G) (G;G) 28
Rs1801262
PubMed [PMID 17192490]
Affy Probeset SNP_A-2314121
Affy Orientation same
On GW 5.0 1
Alleles A/B A/G
Ancestral G
Population NEU(Finnland)
Allele A
Case Freq. 0.37
Control Freq. 0.34
Odds Ratio Het
Odds Ratio Hom
Odds Ratio All 1.15
Disease Type II Diabetes (T2D)


rs1801262 increases susceptibility to Type II Diabetes 1.15 times for carriers of the A allele [PMID 17192490]

Venter snp
Source plos
Gene NEUROD1
allele C
frequency 0.6
sift TOLERATED
HuRef 1103658307448
Disease Association Defects in NEUROD1 are a cause of maturity onset diabetes of the young type VI (MODY6) (MIM:606394). MODY6 is characterized by an autosomal dominant mode of inheritance, onset during young adulthood and a primary defect in insulin secretion.



[PMID 14681825OA-icon.png] Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26).

[PMID 16909454OA-icon.png] NeuroD1 gene and interleukin-18 gene polymorphisms in type 1 diabetes in Dalmatian population of Southern Croatia.

[PMID 20416077OA-icon.png] Identification of type 2 diabetes-associated combination of SNPs using support vector machine.


GET Evidence
NEUROD1-T45A
aa_change Thr45Ala
aa_change_short T45A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.672151
summary