chr9:114235944:G>A Detail (hg38) (COL27A1)

Information

Genome

Assembly Position
hg19 chr9:116,998,224-116,998,224 View the variant detail on this assembly version.
hg38 chr9:114,235,944-114,235,944

HGVS

Type Transcript Protein
RefSeq NM_032888.3:c.2619+292G>A
Ensemble ENST00000356083.8:c.2619+292G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.006
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
Type Database ID Link
Gene MIM 608461 OMIM
HGNC 22986 HGNC
Ensembl ENSG00000196739 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv37348829 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.002 Diabetes A total of 792 patients with T2DM were enrolled and categorized into two groups:... BeFree 25274455 Detail
<0.001 Retinal Diseases A total of 792 patients with T2DM were enrolled and categorized into two groups:... BeFree 25274455 Detail
<0.001 Retinal Diseases A total of 792 patients with T2DM were enrolled and categorized into two groups:... BeFree 25274455 Detail
0.002 diabetes mellitus A total of 792 patients with T2DM were enrolled and categorized into two groups:... BeFree 25274455 Detail
Annotation

Annotations

DescrptionSourceLinks
A total of 792 patients with T2DM were enrolled and categorized into two groups: (1) the DR group co... DisGeNET Detail
A total of 792 patients with T2DM were enrolled and categorized into two groups: (1) the DR group co... DisGeNET Detail
A total of 792 patients with T2DM were enrolled and categorized into two groups: (1) the DR group co... DisGeNET Detail
A total of 792 patients with T2DM were enrolled and categorized into two groups: (1) the DR group co... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1249719 dbSNP
Genome
hg38
Position
chr9:114,235,944-114,235,944
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))
rs1249719
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0061
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
103
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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