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rs6048

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 1 common
(A;G) 1.2 slightly lower risk (10-20%) of deep vein thrombosis
(G;G) 1.2 slightly lower risk (10-20%) of deep vein thrombosis
ReferenceGRCh38 38.1/141
ChromosomeX
Position139551121
GeneF9
is asnp
is mentioned by
dbSNPrs6048
ebirs6048
HLIrs6048
Exacrs6048
Varsomers6048
Maprs6048
PheGenIrs6048
hapmaprs6048
1000 genomesrs6048
hgdprs6048
ensemblrs6048
gopubmedrs6048
geneviewrs6048
scholarrs6048
googlers6048
pharmgkbrs6048
gwascentralrs6048
openSNPrs6048
23andMers6048
23andMe allrs6048
SNP Nexus

SNPshotrs6048
SNPdbers6048
MSV3drs6048
GWAS Ctlgrs6048
GMAF0.1578
Max Magnitude1.2
? (A;A) (A;G) (G;G) 28
Gene variants associated with deep vein thrombosis.[PMID 18349091]

Updated analysis of gene variants associated with deep vein thrombosis.[PMID 20124536]

OMIM300746
Desc
Variant
Relatedalso


ClinVar
Risk rs6048(G;G)
Alt rs6048(G;G)
Reference rs6048(A;A)
Significance Other
Disease Deep venous thrombosis
Variation info
Gene F9
CLNDBN Deep venous thrombosis, protection against
Reversed 0
HGVS NC_000023.10:g.138633280A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000011334.2,



[PMID 19286883OA-icon.png] F9 Malmo, factor IX and deep vein thrombosis.


GET Evidence
F9-T194A
aa_change Thr194Ala
aa_change_short T194A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.233078
summary