chr8:9903189:G>C Detail (hg38)

Information

Genome

Assembly Position
hg19 chr8:9,760,699-9,760,699 View the variant detail on this assembly version.
hg38 chr8:9,903,189-9,903,189

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.121
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
<0.001 Squamous cell carcinoma of esophagus The present study provides the first evidence that pri-miR-124-1 rs531564 and pr... BeFree 24945256 Detail
<0.001 Squamous cell carcinoma of esophagus The present study provides the first evidence that pri-miR-124-1 rs531564 and pr... BeFree 24945256 Detail
<0.001 Diabetes Mellitus, Non-Insulin-Dependent Two polymorphisms were associated with T2DM susceptibility: in particular, the G... BeFree 23532299 Detail
<0.001 Diabetes Mellitus, Non-Insulin-Dependent Two polymorphisms were associated with T2DM susceptibility: in particular, the G... BeFree 23532299 Detail
Annotation

Annotations

DescrptionSourceLinks
The present study provides the first evidence that pri-miR-124-1 rs531564 and pri-miR-34 rs4938723 w... DisGeNET Detail
The present study provides the first evidence that pri-miR-124-1 rs531564 and pri-miR-34 rs4938723 w... DisGeNET Detail
Two polymorphisms were associated with T2DM susceptibility: in particular, the G allele of rs895819 ... DisGeNET Detail
Two polymorphisms were associated with T2DM susceptibility: in particular, the G allele of rs895819 ... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs531564 dbSNP
Genome
hg38
Position
chr8:9,903,189-9,903,189
Variant Type
snv
Reference Allele
G
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))
rs531564
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1209
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2026
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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