chr17:45290287:T>C Detail (hg38) (MAP3K14)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:43,367,653-43,367,653 View the variant detail on this assembly version. |
hg38 | chr17:45,290,287-45,290,287 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_003954.4:c.256+203A>G | |
Ensemble | ENST00000344686.8:c.256+203A>G | |
ENST00000376926.8:c.256+203A>G |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.893 | |
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 |
---|---|---|---|---|---|
0.009 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
0.033 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
0.008 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
0.005 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
0.010 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
0.003 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
0.098 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
0.012 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
0.183 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
0.422 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
0.003 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
0.131 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
<0.001 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
0.008 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
0.004 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
<0.001 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
0.034 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
0.144 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
<0.001 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
0.008 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
0.130 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
0.187 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
0.012 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
0.004 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
0.131 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
<0.001 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
0.009 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs7222094 dbSNP
- Genome
- hg38
- Position
- chr17:45,290,287-45,290,287
- 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))
- rs7222094
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.8933
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 14972
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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