chr13:36078480:T>C Detail (hg38) (DCLK1)

Information

Genome

Assembly Position
hg19 chr13:36,652,617-36,652,617 View the variant detail on this assembly version.
hg38 chr13:36,078,480-36,078,480

HGVS

Type Transcript Protein
RefSeq NM_004734.4:c.723+33389A>G
Ensemble ENST00000255448.8:c.723+33389A>G
ENST00000360631.8:c.723+33389A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.515
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 604742 OMIM
HGNC 2700 HGNC
Ensembl ENSG00000133083 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv48298420 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
0.001 Glaucoma, Primary Open Angle Although the rs10483727 (SIX1), rs1926320 (DCLK1), or rs12025126 (RERE) alone ma... BeFree 22584021 Detail
<0.001 low tension glaucoma Although the rs10483727 (SIX1), rs1926320 (DCLK1), or rs12025126 (RERE) alone ma... BeFree 22584021 Detail
<0.001 Glaucoma, Primary Open Angle Although the rs10483727 (SIX1), rs1926320 (DCLK1), or rs12025126 (RERE) alone ma... BeFree 22584021 Detail
<0.001 low tension glaucoma Although the rs10483727 (SIX1), rs1926320 (DCLK1), or rs12025126 (RERE) alone ma... BeFree 22584021 Detail
Annotation

Annotations

DescrptionSourceLinks
Although the rs10483727 (SIX1), rs1926320 (DCLK1), or rs12025126 (RERE) alone may not be sufficient ... DisGeNET Detail
Although the rs10483727 (SIX1), rs1926320 (DCLK1), or rs12025126 (RERE) alone may not be sufficient ... DisGeNET Detail
Although the rs10483727 (SIX1), rs1926320 (DCLK1), or rs12025126 (RERE) alone may not be sufficient ... DisGeNET Detail
Although the rs10483727 (SIX1), rs1926320 (DCLK1), or rs12025126 (RERE) alone may not be sufficient ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1926320 dbSNP
Genome
hg38
Position
chr13:36,078,480-36,078,480
Variant Type
snv
Reference Allele
T
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))
rs1926320
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5153
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8636
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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