chr4:154604124:G>A Detail (hg38) (FGG)

Information

Genome

Assembly Position
hg19 chr4:155,525,276-155,525,276 View the variant detail on this assembly version.
hg38 chr4:154,604,124-154,604,124

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.496
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2016-06-14 criteria provided, single submitter congenital afibrinogenemia germline Detail
Benign 2021-05-12 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.107 colorectal cancer Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs179988... BeFree 21422408 Detail
0.011 colorectal cancer Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs179988... BeFree 21422408 Detail
0.004 colorectal carcinoma Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs179988... BeFree 21422408 Detail
0.005 colorectal cancer Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs179988... BeFree 21422408 Detail
<0.001 colorectal carcinoma Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs179988... BeFree 21422408 Detail
0.026 colorectal carcinoma Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs179988... BeFree 21422408 Detail
0.019 Factor V Leiden mutation SNP in these genes showed association with venous thrombosis risk in whites: MTH... BeFree 22707612 Detail
0.082 Factor V Leiden mutation SNP in the following genes demonstrated association with thrombosis risk overall... BeFree 22707612 Detail
0.015 myocardial infarction A functional single nucleotide polymorphism (SNP) in the 3' untranslated region ... BeFree 20709368 Detail
0.012 Fibrinogen Adverse Event NA GAD Detail
<0.001 Deep Vein Thrombosis Recently, a haplotype-tagging single nucleotide polymorphism characterized by a ... BeFree 17445871 Detail
0.005 Deep Vein Thrombosis A functional single nucleotide polymorphism (SNP) in the 3' untranslated region ... BeFree 20709368 Detail
0.122 Venous thromboembolism Meta-analysis of 65,734 individuals identifies TSPAN15 and SLC44A2 as two suscep... GWASCAT 25772935 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000509.5(FGG):c.*216C>T AND Congenital afibrinogenemia ClinVar Detail
NM_000509.5(FGG):c.*216C>T AND not provided ClinVar Detail
Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C&gt;T ... DisGeNET Detail
Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C&gt;T ... DisGeNET Detail
Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C&gt;T ... DisGeNET Detail
Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C&gt;T ... DisGeNET Detail
Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C&gt;T ... DisGeNET Detail
Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C&gt;T ... DisGeNET Detail
SNP in these genes showed association with venous thrombosis risk in whites: MTHFR rs1801131 (OR 1.5... DisGeNET Detail
SNP in the following genes demonstrated association with thrombosis risk overall in the discovery or... DisGeNET Detail
A functional single nucleotide polymorphism (SNP) in the 3' untranslated region of the FGG gene (FGG... DisGeNET Detail
NA DisGeNET Detail
Recently, a haplotype-tagging single nucleotide polymorphism characterized by a C to T substitution ... DisGeNET Detail
A functional single nucleotide polymorphism (SNP) in the 3' untranslated region of the FGG gene (FGG... DisGeNET Detail
Meta-analysis of 65,734 individuals identifies TSPAN15 and SLC44A2 as two susceptibility loci for ve... DisGeNET Detail
Gene
-
dbSNP
rs2066865 dbSNP
Genome
hg38
Position
chr4:154,604,124-154,604,124
Variant Type
snv
Reference Allele
G
Alternative Allele
A
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs2066865
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4957
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8308
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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