chr9:123705087:A>G Detail (hg19) (C5)

Information

Genome

Assembly Position
hg19 chr9:123,705,087-123,705,087
hg38 chr9:120,942,809-120,942,809 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000696281.1:c.*548-8855T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.465
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 120900 OMIM
HGNC 1331 HGNC
Ensembl ENSG00000106804 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv37497895 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.311 rheumatoid arthritis No statistically significant association of TRAF1/C5 SNPs rs3761847 and rs108184... BeFree 19445664 Detail
<0.001 Acquired aplastic anemia TRAF1/C5 rs10818488 polymorphism is not a genetic risk factor for acquired aplas... BeFree 25500258 Detail
0.425 rheumatoid arthritis To determine whether the tumor necrosis factor (TNF)-receptor associated factor ... BeFree 23321589 Detail
<0.001 aplastic anemia Our results indicated that TRAF1/C5 rs10818488 polymorphism might not contribute... BeFree 25500258 Detail
0.040 rheumatoid arthritis To determine whether the tumor necrosis factor (TNF)-receptor associated factor ... BeFree 23321589 Detail
0.311 rheumatoid arthritis Lack of association between single nucleotide polymorphism rs10818488 in TRAF1/C... BeFree 24338224 Detail
0.311 rheumatoid arthritis Association study of TRAF1/C5 polymorphism (rs10818488) with susceptibility to r... BeFree 23321589 Detail
0.009 Lupus Erythematosus, Systemic Association study of TRAF1/C5 polymorphism (rs10818488) with susceptibility to r... BeFree 23321589 Detail
0.008 rheumatoid arthritis Stratified analyses indicated that the TRAF1/C5 rs10818488 A allele was signific... BeFree 24234752 Detail
Annotation

Annotations

DescrptionSourceLinks
No statistically significant association of TRAF1/C5 SNPs rs3761847 and rs10818488 with RA was detec... DisGeNET Detail
TRAF1/C5 rs10818488 polymorphism is not a genetic risk factor for acquired aplastic anemia in a Chin... DisGeNET Detail
To determine whether the tumor necrosis factor (TNF)-receptor associated factor 1/complement compone... DisGeNET Detail
Our results indicated that TRAF1/C5 rs10818488 polymorphism might not contribute to susceptibility t... DisGeNET Detail
To determine whether the tumor necrosis factor (TNF)-receptor associated factor 1/complement compone... DisGeNET Detail
Lack of association between single nucleotide polymorphism rs10818488 in TRAF1/C5 region and rheumat... DisGeNET Detail
Association study of TRAF1/C5 polymorphism (rs10818488) with susceptibility to rheumatoid arthritis ... DisGeNET Detail
Association study of TRAF1/C5 polymorphism (rs10818488) with susceptibility to rheumatoid arthritis ... DisGeNET Detail
Stratified analyses indicated that the TRAF1/C5 rs10818488 A allele was significantly associated wit... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs10818488 dbSNP
Genome
hg19
Position
chr9:123,705,087-123,705,087
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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))
rs10818488
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4646
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7787
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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