chr6:137874586:C>G Detail (hg38) (TNFAIP3)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr6:138,195,723-138,195,723 View the variant detail on this assembly version. |
hg38 | chr6:137,874,586-137,874,586 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001270507.1:c.296-259C>G | |
NM_001270508.1:c.296-259C>G | ||
NM_006290.3:c.296-259C>G |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.079 | |
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 |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.268 | Lupus Erythematosus, Systemic | Single-marker analysis validated the association of BLK rs2736340 (P=4.25×10(-6)... | BeFree | 21905002 | Detail |
0.008 | Autoimmune Diseases | [Convincing associations between TNFAIP3 variants and autoimmune diseases have b... | GAD | 20511617 | Detail |
0.003 | systemic scleroderma | Association of the TNFAIP3 rs5029939 variant with systemic sclerosis in the Euro... | BeFree | 20511617 | Detail |
0.003 | systemic scleroderma | [Association of the TNFAIP3 rs5029939 variant with systemic sclerosis in the Eur... | GAD | 20511617 | Detail |
0.268 | Lupus Erythematosus, Systemic | [Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythe... | GAD | 19165918 | Detail |
0.268 | Lupus Erythematosus, Systemic | Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythem... | GWASCAT | 19165918 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Single-marker analysis validated the association of BLK rs2736340 (P=4.25×10(-6)) as well as TNFSF4 ... | DisGeNET | Detail |
[Convincing associations between TNFAIP3 variants and autoimmune diseases have been reported.] | DisGeNET | Detail |
Association of the TNFAIP3 rs5029939 variant with systemic sclerosis in the European Caucasian popul... | DisGeNET | Detail |
[Association of the TNFAIP3 rs5029939 variant with systemic sclerosis in the European Caucasian popu... | DisGeNET | Detail |
[Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus.] | DisGeNET | Detail |
Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus. | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs5029939 dbSNP
- Genome
- hg38
- Position
- chr6:137,874,586-137,874,586
- Variant Type
- snv
- Reference Allele
- C
- 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))
- rs5029939
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0791
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1326
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
Genome browser