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rs6050

From SNPedia

Orientationminus
Stabilizedminus
Make rs6050(A;A)
Make rs6050(A;G)
Make rs6050(G;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position154586438
GeneFGA
is asnp
is mentioned by
dbSNPrs6050
ebirs6050
HLIrs6050
Exacrs6050
Varsomers6050
Maprs6050
PheGenIrs6050
hapmaprs6050
1000 genomesrs6050
hgdprs6050
ensemblrs6050
gopubmedrs6050
geneviewrs6050
scholarrs6050
googlers6050
pharmgkbrs6050
gwascentralrs6050
openSNPrs6050
23andMers6050
23andMe allrs6050
SNP Nexus

SNPshotrs6050
SNPdbers6050
MSV3drs6050
GWAS Ctlgrs6050
GMAF0.3292
Max Magnitude
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene FGA
allele C
frequency 0.258
sift TOLERATED
HuRef 1103654590952
Disease Association Defects in FGA are a cause of hereditary renal amyloidosis (MIM:105200).



OMIM134820
Desc
Variant0026
Relatedalso
GWAS snp
PMID [PMID 21757653OA-icon.png]
Trait
Title Association of {gamma}' Fibrinogen With Cardiovascular Disease.
Risk Allele C
P-val 9E-90
Odds Ratio 0.2600 [0.23-0.29] g/L decrease


[PMID 22386478] Fibrinogen polymorphisms associated with sporadic cerebral hemorrhage in a Chinese population


[PMID 22642105] [Polymorphic variants of genes encoding interleukin-6 and fibrinogen, the risk of ischemic stroke and fibrinogen levels]


ClinVar
Risk rs6050(T;T)
Alt rs6050(T;T)
Reference rs6050(A;A)
Significance Other
Disease Venous thromboembolism
Variation info
Gene FGA
CLNDBN Venous thromboembolism, susceptibility to
Reversed 1
HGVS NC_000004.11:g.155507590T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000017882.3,



[PMID 16846490OA-icon.png] Lemierre's syndrome and genetic polymorphisms: a case report.


[PMID 19552680OA-icon.png] Common hemostasis and inflammation gene variants and venous thrombosis in older adults from the Cardiovascular Health Study.


[PMID 20059469OA-icon.png] Interaction between fibrinogen and IL-6 genetic variants and associations with cardiovascular disease risk in the Cardiovascular Health Study.


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


[PMID 22267327] Fibrinogen and factor XIII A-subunit genotypes interactively influence C-reactive protein levels during inflammation.


[PMID 22273812OA-icon.png] Replication and characterisation of genetic variants in the fibrinogen gene cluster with plasma fibrinogen levels and haematological traits in the Third National Health and Nutrition Examination Survey.


GET Evidence
FGA-T331A
aa_change Thr331Ala
aa_change_short T331A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.28918
summary



[PMID 24908450OA-icon.png] A genetic association study of D-dimer levels with 50K SNPs from a candidate gene chip in four ethnic groups


[PMID 23944290] Association between two functional fibrinogen-related polymorphisms and ischemic stroke: a case-control study