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rs2228314

From SNPedia

Orientationplus
Stabilizedplus
Make rs2228314(C;C)
Make rs2228314(C;G)
Make rs2228314(G;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position41880738
GeneSREBF2
is asnp
is mentioned by
dbSNPrs2228314
ebirs2228314
HLIrs2228314
Exacrs2228314
Varsomers2228314
Maprs2228314
PheGenIrs2228314
hapmaprs2228314
1000 genomesrs2228314
hgdprs2228314
ensemblrs2228314
gopubmedrs2228314
geneviewrs2228314
scholarrs2228314
googlers2228314
pharmgkbrs2228314
gwascentralrs2228314
openSNPrs2228314
23andMers2228314
23andMe allrs2228314
SNP Nexus

SNPshotrs2228314
SNPdbers2228314
MSV3drs2228314
GWAS Ctlgrs2228314
Merged fromRs4822063
GMAF0.3664
Max Magnitude
? (C;C) (C;G) (G;G) 28

[PMID 20111910] Sterol regulatory element-binding transcription factor (SREBF)-2, SREBF cleavage-activating protein (SCAP), and premature coronary artery disease in a Chinese population


[PMID 22662110OA-icon.png] Central Role of SREBP-2 in the Pathogenesis of Osteoarthritis

[PMID 19116028OA-icon.png] Expression of sterol regulatory element-binding transcription factor (SREBF) 2 and SREBF cleavage-activating protein (SCAP) in human atheroma and the association of their allelic variants with sudden cardiac death.


[PMID 19740467] Interactions among genetic variants from SREBP2 activating-related pathway on risk of coronary heart disease in Chinese Han population.


GET Evidence
SREBF2-G595A
aa_change Gly595Ala
aa_change_short G595A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.370701
summary



[PMID 24992162] Relationship of SREBP-2 rs2228314 G>C Polymorphism with Nonalcoholic Fatty Liver Disease in a Han Chinese Population


[PMID 25005769] Association Between Single Nucleotide Polymorphisms of Sterol Regulatory Element Binding Protein-2 and Liver X Receptor α Gene and Risk of Polycystic Ovary Syndrome in a Chinese Han Population