rs4918
| Orientation | plus |
| Stabilized | plus |
| Make rs4918(C;C) |
| Make rs4918(C;G) |
| Make rs4918(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 186620593 |
| Gene | AHSG |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4918 |
| dbSNP (classic) | rs4918 |
| ClinGen | rs4918 |
| ebi | rs4918 |
| HLI | rs4918 |
| Exac | rs4918 |
| Gnomad | rs4918 |
| Varsome | rs4918 |
| LitVar | rs4918 |
| Map | rs4918 |
| PheGenI | rs4918 |
| Biobank | rs4918 |
| 1000 genomes | rs4918 |
| hgdp | rs4918 |
| ensembl | rs4918 |
| geneview | rs4918 |
| scholar | rs4918 |
| rs4918 | |
| pharmgkb | rs4918 |
| gwascentral | rs4918 |
| openSNP | rs4918 |
| 23andMe | rs4918 |
| SNPshot | rs4918 |
| SNPdbe | rs4918 |
| MSV3d | rs4918 |
| GWAS Ctlg | rs4918 |
| GMAF | 0.3104 |
| Max Magnitude | 0 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
[1] Homozygosity for the rs2593813:G-rs4917:Met-rs4918:Ser haplotype conferred an increased risk for leanness
[PMID 20605840] Is fetuin-A a mortality risk factor in dialysis patients or a mere risk marker? A Mendelian randomization approach
| ClinVar | |
|---|---|
| Risk | rs4918(C;C) |
| Alt | rs4918(C;C) |
| Reference | rs4918(G;G) |
| Significance | Other |
| Disease | Leanness |
| Variation | info |
| Gene | AHSG |
| CLNDBN | Leanness, susceptibility to |
| Reversed | 0 |
| HGVS | NC_000003.11:g.186338382G>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000017419.2, |
[PMID 15806395] AHSG gene variant is associated with leanness among Swedish men.
[PMID 16046317] A synonymous coding polymorphism in the alpha2-Heremans-schmid glycoprotein gene is associated with type 2 diabetes in French Caucasians.
[PMID 17303000] Association and linkage analysis of COL1A1 and AHSG gene polymorphisms with femoral neck bone geometric parameters in both Caucasian and Chinese nuclear families.
[PMID 18805939
] Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.
[PMID 19098027] SNPnexus: a web database for functional annotation of newly discovered and public domain single nucleotide polymorphisms.
[PMID 23907641] Association of AHSG Gene Polymorphisms with Ischemic Stroke in a Han Chinese Population
[PMID 26549924] Allelic Imbalance of mRNA Associated with α2-HS Glycoprotein (Fetuin-A) Polymorphism
[PMID 32002794] Association of AHSG gene polymorphisms with serum Fetuin-A levels in individuals with cardiovascular calcification in west of Iran.
