chr14:61072875:T>C Detail (hg19)

Information

Genome

Assembly Position
hg19 chr14:61,072,875-61,072,875
hg38 chr14:60,606,157-60,606,157 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:0.227
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 Glaucoma, Primary Open Angle Although the rs10483727 (SIX1), rs1926320 (DCLK1), or rs12025126 (RERE) alone ma... BeFree 22584021 Detail
0.001 Glaucoma, Primary Open Angle SNPs associated with VCDR rs1063192 (CDKN2B) and rs10483727 (SIX1/SIX6) were als... BeFree 21398277 Detail
0.002 Glaucoma, Primary Open Angle SNPs associated with VCDR rs1063192 (CDKN2B) and rs10483727 (SIX1/SIX6) were als... BeFree 21398277 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
0.002 Glaucoma, Primary Open Angle The overall meta-analysis of the GLAUGEN and NEIGHBOR dataset results (3,146 cas... BeFree 22570617 Detail
0.001 Glaucoma, Primary Open Angle The overall meta-analysis of the GLAUGEN and NEIGHBOR dataset results (3,146 cas... BeFree 22570617 Detail
0.002 Glaucoma, Primary Open Angle The overall meta-analysis of the GLAUGEN and NEIGHBOR dataset results (3,146 cas... BeFree 22570617 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 SNPs associated with VCDR rs1063192 (CDKN2B) and rs10483727 (SIX1/SIX6) were als... BeFree 21398277 Detail
Annotation

Annotations

DescrptionSourceLinks
Although the rs10483727 (SIX1), rs1926320 (DCLK1), or rs12025126 (RERE) alone may not be sufficient ... DisGeNET Detail
SNPs associated with VCDR rs1063192 (CDKN2B) and rs10483727 (SIX1/SIX6) were also associated with PO... DisGeNET Detail
SNPs associated with VCDR rs1063192 (CDKN2B) and rs10483727 (SIX1/SIX6) were also associated with PO... 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
The overall meta-analysis of the GLAUGEN and NEIGHBOR dataset results (3,146 cases and 3,487 control... DisGeNET Detail
The overall meta-analysis of the GLAUGEN and NEIGHBOR dataset results (3,146 cases and 3,487 control... DisGeNET Detail
The overall meta-analysis of the GLAUGEN and NEIGHBOR dataset results (3,146 cases and 3,487 control... DisGeNET Detail
Although the rs10483727 (SIX1), rs1926320 (DCLK1), or rs12025126 (RERE) alone may not be sufficient ... DisGeNET Detail
SNPs associated with VCDR rs1063192 (CDKN2B) and rs10483727 (SIX1/SIX6) were also associated with PO... DisGeNET Detail
Gene
-
dbSNP
rs10483727 dbSNP
Genome
hg19
Position
chr14:61,072,875-61,072,875
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))
rs10483727
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2271
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3807
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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