chr1:157670757:C>T Detail (hg19)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:157,670,757-157,670,757 |
hg38 | chr1:157,700,967-157,700,967 View the variant detail on this assembly version. |
HGVS
[No Data.]
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.223 | |
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
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.234 | ulcerative colitis | Our aim was to study the role of two promoter SNPs of the FCRL3 gene (-169A>G... | BeFree | 17389014 | Detail |
0.010 | Inflammatory Bowel Diseases | Our aim was to study the role of two promoter SNPs of the FCRL3 gene (-169A>G... | BeFree | 17389014 | Detail |
0.397 | Inflammatory Bowel Diseases | Our aim was to study the role of two promoter SNPs of the FCRL3 gene (-169A>G... | BeFree | 17389014 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Our aim was to study the role of two promoter SNPs of the FCRL3 gene (-169A>G, rs7528684 and -110... | DisGeNET | Detail |
Our aim was to study the role of two promoter SNPs of the FCRL3 gene (-169A>G, rs7528684 and -110... | DisGeNET | Detail |
Our aim was to study the role of two promoter SNPs of the FCRL3 gene (-169A>G, rs7528684 and -110... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs11264799 dbSNP
- Genome
- hg19
- Position
- chr1:157,670,757-157,670,757
- 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))
- rs11264799
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.2229
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 3736
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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