chr9:120944104:T>C Detail (hg38) (C5)

Information

Genome

Assembly Position
hg19 chr9:123,706,382-123,706,382 View the variant detail on this assembly version.
hg38 chr9:120,944,104-120,944,104

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000696281.1:c.*547+8088A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.724
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 tgv37497934 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 To assess the frequency of the RA-conferring susceptibility TRAF1 polymorphisms ... BeFree 23125866 Detail
Annotation

Annotations

DescrptionSourceLinks
To assess the frequency of the RA-conferring susceptibility TRAF1 polymorphisms rs3761847 and rs2900... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2900180 dbSNP
Genome
hg38
Position
chr9:120,944,104-120,944,104
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs2900180
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.7244
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
12141
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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