chr9:120927961:G>A Detail (hg38) (TRAF1)

Information

Genome

Assembly Position
hg19 chr9:123,690,239-123,690,239 View the variant detail on this assembly version.
hg38 chr9:120,927,961-120,927,961

HGVS

Type Transcript Protein
RefSeq NM_001190945.1:c.-366+1153C>T
Ensemble ENST00000540010.1:c.-366+1153C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.472
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 601711 OMIM
HGNC 12031 HGNC
Ensembl ENSG00000056558 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv37497629 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
0.524 rheumatoid arthritis We genotyped SNPs rs3761847 and rs7021206 at the TRAF1/C5 locus and rs2476601 SN... BeFree 21492465 Detail
0.311 rheumatoid arthritis To assess the frequency of the RA-conferring susceptibility TRAF1 polymorphisms ... BeFree 23125866 Detail
0.311 rheumatoid arthritis Genome-wide association study meta-analysis identifies seven new rheumatoid arth... GWASCAT 20453842 Detail
0.123 rheumatoid arthritis Our results demonstrate that within and around TRAF1, excluding PHF19 and C5, SN... BeFree 19714643 Detail
<0.001 Cardiovascular Diseases The risk of death in RA is increased in TRAF1/C5 rs3761847 GG homozygotes and ap... BeFree 19116907 Detail
0.311 rheumatoid arthritis The risk of death in RA is increased in TRAF1/C5 rs3761847 GG homozygotes and ap... BeFree 19116907 Detail
0.311 rheumatoid arthritis TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study. GWASCAT 17804836 Detail
0.311 rheumatoid arthritis No statistically significant association of TRAF1/C5 SNPs rs3761847 and rs108184... BeFree 19445664 Detail
Annotation

Annotations

DescrptionSourceLinks
We genotyped SNPs rs3761847 and rs7021206 at the TRAF1/C5 locus and rs2476601 SNP in the PTPN22 gene... DisGeNET Detail
To assess the frequency of the RA-conferring susceptibility TRAF1 polymorphisms rs3761847 and rs2900... DisGeNET Detail
Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. DisGeNET Detail
Our results demonstrate that within and around TRAF1, excluding PHF19 and C5, SNPs highly correlated... DisGeNET Detail
The risk of death in RA is increased in TRAF1/C5 rs3761847 GG homozygotes and appears to be independ... DisGeNET Detail
The risk of death in RA is increased in TRAF1/C5 rs3761847 GG homozygotes and appears to be independ... DisGeNET Detail
TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study. DisGeNET Detail
No statistically significant association of TRAF1/C5 SNPs rs3761847 and rs10818488 with RA was detec... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3761847 dbSNP
Genome
hg38
Position
chr9:120,927,961-120,927,961
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))
rs3761847
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4724
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7918
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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