chr6:167437988:C>T Detail (hg19) (CEP43)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr6:167,437,988-167,437,988 |
hg38 | chr6:167,024,500-167,024,500 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_194429.1:c.747-282C>T | |
NM_007045.3:c.807-282C>T | ||
NM_001278690.1:c.666-282C>T |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.427 | |
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 |
---|---|---|---|---|---|
0.127 | Crohn Disease | Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn's disea... | GWASCAT | 20570966 | Detail |
0.127 | Crohn Disease | [Genome-wide association defines more than 30 distinct susceptibility loci for C... | GAD | 18587394 | Detail |
0.127 | Crohn Disease | [Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn\'s dis... | GAD | 20570966 | Detail |
0.008 | Crohn Disease | [Genome-wide association defines more than 30 distinct susceptibility loci for C... | GAD | 18587394 | Detail |
0.127 | Crohn Disease | Genome-wide association defines more than 30 distinct susceptibility loci for Cr... | GWASCAT | 18587394 | Detail |
0.001 | ulcerative colitis | Here, we studied the susceptibility nature of three components of IL23 signallin... | BeFree | 22269120 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn's disease. | DisGeNET | Detail |
[Genome-wide association defines more than 30 distinct susceptibility loci for Crohn\'s disease.] | DisGeNET | Detail |
[Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn\'s disease.] | DisGeNET | Detail |
[Genome-wide association defines more than 30 distinct susceptibility loci for Crohn\'s disease.] | DisGeNET | Detail |
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. | DisGeNET | Detail |
Here, we studied the susceptibility nature of three components of IL23 signalling and Th17 cell diff... | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs2301436 dbSNP
- Genome
- hg19
- Position
- chr6:167,437,988-167,437,988
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- 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))
- rs2301436
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.4268
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 7153
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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