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rs4918

From SNPedia

Orientationplus
Stabilizedplus
Make rs4918(C;C)
Make rs4918(C;G)
Make rs4918(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position186620593
GeneAHSG
is asnp
is mentioned by
dbSNPrs4918
ebirs4918
HLIrs4918
Exacrs4918
Varsomers4918
Maprs4918
PheGenIrs4918
hapmaprs4918
1000 genomesrs4918
hgdprs4918
ensemblrs4918
gopubmedrs4918
geneviewrs4918
scholarrs4918
googlers4918
pharmgkbrs4918
gwascentralrs4918
openSNPrs4918
23andMers4918
23andMe allrs4918
SNP Nexus

SNPshotrs4918
SNPdbers4918
MSV3drs4918
GWAS Ctlgrs4918
GMAF0.3104
Max Magnitude
? (C;C) (C;G) (G;G) 28

[1] Homozygosity for the rs2593813:G-rs4917:Met-rs4918:Ser haplotype conferred an increased risk for leanness

Neighborrs4917
Distance669
Neighborrs2518136
Distance555
OMIM138680
DescALPHA-2-HS-GLYCOPROTEIN; AHSG
Variant
Relatedalso


[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 18805939OA-icon.png] Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.


[PMID 19098027OA-icon.png] SNPnexus: a web database for functional annotation of newly discovered and public domain single nucleotide polymorphisms.


GET Evidence
AHSG-S256T
aa_change Ser256Thr
aa_change_short S256T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.658673
summary



[PMID 23907641] Association of AHSG Gene Polymorphisms with Ischemic Stroke in a Han Chinese Population


[PMID 26549924OA-icon.png] Allelic Imbalance of mRNA Associated with α2-HS Glycoprotein (Fetuin-A) Polymorphism