chr1:157700967:C>T Detail (hg38)

Information

Genome

Assembly Position
hg19 chr1:157,670,757-157,670,757 View the variant detail on this assembly version.
hg38 chr1:157,700,967-157,700,967

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

DescrptionSourceLinks
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
hg38
Position
chr1:157,700,967-157,700,967
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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