chr14:102799329:G>A Detail (hg38) (TRAF3)

Information

Genome

Assembly Position
hg19 chr14:103,265,666-103,265,666 View the variant detail on this assembly version.
hg38 chr14:102,799,329-102,799,329

HGVS

Type Transcript Protein
RefSeq NM_001199427.1:c.-18+21654G>A
NM_003300.3:c.-18+21654G>A
Ensemble ENST00000351691.10:c.-157+21654G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.402
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 601896 OMIM
HGNC 12033 HGNC
Ensembl ENSG00000131323 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv52016532 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
0.004 multiple myeloma Single nucleotide polymorphisms in the TRAF3 rs12147254 A allele and a specific ... BeFree 21228035 Detail
<0.001 5,10-Methylenetetrahydrofolate reductase deficiency With the aim to conclusively validate the strongest associations so far reported... BeFree 24521996 Detail
<0.001 5,10-Methylenetetrahydrofolate reductase deficiency With the aim to conclusively validate the strongest associations so far reported... BeFree 24521996 Detail
<0.001 5,10-Methylenetetrahydrofolate reductase deficiency With the aim to conclusively validate the strongest associations so far reported... BeFree 24521996 Detail
Annotation

Annotations

DescrptionSourceLinks
Single nucleotide polymorphisms in the TRAF3 rs12147254 A allele and a specific haplotype 1 of TRAF3... DisGeNET Detail
With the aim to conclusively validate the strongest associations so far reported, we selected the po... DisGeNET Detail
With the aim to conclusively validate the strongest associations so far reported, we selected the po... DisGeNET Detail
With the aim to conclusively validate the strongest associations so far reported, we selected the po... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs12147254 dbSNP
Genome
hg38
Position
chr14:102,799,329-102,799,329
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))
rs12147254
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4016
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6730
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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