Lurp

Cross-platforn SNP explorer. By Peter D'Adamo, ND


rs2248690

Hard Link
rs2248690 is a snp on gene AHSG (alpha-2-HS-glycoprotein)

GeneAHSG Chromosome number Chromosome position
Alleles (transliterated to +) Minor Allele Minor Allele Frequency
Notation T>A Clinical significance Orientation (dbSNP) - (negative/reverse strand)
Gene Function
Alpha2-HS glycoprotein (AHSG), a glycoprotein present in the serum, is synthesized by the liver. It is involved in several functions, such as endocytosis, brain development and the formation of bone tissue. The protein is commonly present in the cortical plate of the immature cerebral cortex and bone marrow hemopoietic matrix, and it has therefore been postulated that it participates in the development of the tissues. However, its exact significance is still obscure. Genetic background may play an important role in the process of SARS-CoV infection and SARS development. Several proteins could interact with the nucleocapsid protein of the SARS coronavirus (SARS-CoV). α-2-Heremans-Schmid Glycoprotein (AHSG), which is required for macrophage deactivation by endogenous cations, is associated with inflammatory regulation. Cytochrome P450 Family 3A (CYP4F3A) inactivates Leukotriene B4 (LTB4) in human neutrophils and the liver. Variants exist showing an association between these two inflammation-associated genes and SARS development. After adjusting for age and sex, only rs2248690 was found to be associated with SARS susceptibility. The SNP rs2248690 affected the transcriptional activity of the AHSG promoter and thus regulated the AHSG serum level. Therefore, our study has demonstrated that the AA genotype of rs2268690, which leads to a higher AHSG serum concentration, was significantly associated with protection against SARS development.
This SNP is reported by one or more services.


23andme V3

REPORTED




23andme V4

REPORTED




23andme V5

NOT REPORTED




Ancestry DNA

NOT REPORTED




Genos Export for Promethease

NOT REPORTED




DSL/ Opus Chip

NOT REPORTED




Opus 23 Curated

CURATED




CLINVAR Curated

NOT CURATED




GWAS Curated

NOT CURATED





MOST RECENT SEARCHES:
rs1800450 (MBL2) | rs17000900 () | rs2660 () | rs4830974 () | rs1304029 (B3GAT2) | rs2248690 () | rs2158082 () | rs879922 () | rs4240157 () | rs2074192 () | rs2048683 ()

MOST FREQUENTLY SEARCHED:
rs429358 (APOE) | rs9939609 (FTO) | rs1801181 (CBS) | rs1799941 (SHBG) | rs1801133 (MTHFR) | rs2187668 (HLA-DQA1) | rs4680 (COMT) | rs6025 (F5) | rs20541 (IL13) | rs2569191 (CD14) | rs2235544 (DIO1)








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