chr1:8759554:T>C Detail (hg19) (RERE)

Information

Genome

Assembly Position
hg19 chr1:8,759,554-8,759,554
hg38 chr1:8,699,495-8,699,495 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_012102.3:c.-144-43054A>G
NM_001042681.1:c.-144-43054A>G
Ensemble ENST00000337907.7:c.-144-43054A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.729
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 605226 OMIM
HGNC 9965 HGNC
Ensembl ENSG00000142599 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv281284 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
rs12025126 dbSNP
Genome
hg19
Position
chr1:8,759,554-8,759,554
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))
rs12025126
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.7289
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
12216
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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