chr3:37232458:G>A Detail (hg19)

Information

Genome

Assembly Position
hg19 chr3:37,232,458-37,232,458
hg38 chr3:37,190,967-37,190,967 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:0.519
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
0.082 colorectal carcinoma We previously demonstrated that SNPs (rs1800734, rs749072, and rs13098279) in th... BeFree 23240038 Detail
0.160 colorectal cancer We previously demonstrated that SNPs (rs1800734, rs749072, and rs13098279) in th... BeFree 23240038 Detail
Annotation

Annotations

DescrptionSourceLinks
We previously demonstrated that SNPs (rs1800734, rs749072, and rs13098279) in the MLH1 gene region a... DisGeNET Detail
We previously demonstrated that SNPs (rs1800734, rs749072, and rs13098279) in the MLH1 gene region a... DisGeNET Detail
Gene
-
dbSNP
rs13098279 dbSNP
Genome
hg19
Position
chr3:37,232,458-37,232,458
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs13098279
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5186
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8692
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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