chr15:58687880:T>C Detail (hg19)

Information

Genome

Assembly Position
hg19 chr15:58,687,880-58,687,880
hg38 chr15:58,395,681-58,395,681 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:0.191
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
0.014 age related macular degeneration The LIPC promoter variants rs493258 and rs10468017 were associated with advanced... BeFree 23348725 Detail
0.002 Diabetes After multivariate adjustment for age, sex, educational level, smoking, BMI, lip... BeFree 24608419 Detail
0.480 age related macular degeneration After multivariate adjustment for age, sex, educational level, smoking, BMI, lip... BeFree 24608419 Detail
<0.001 diabetes mellitus After multivariate adjustment for age, sex, educational level, smoking, BMI, lip... BeFree 24608419 Detail
0.010 age related macular degeneration After multivariate adjustment for age, sex, educational level, smoking, BMI, lip... BeFree 24608419 Detail
0.010 diabetes mellitus After multivariate adjustment for age, sex, educational level, smoking, BMI, lip... BeFree 24608419 Detail
0.128 age related macular degeneration After multivariate adjustment for age, sex, educational level, smoking, BMI, lip... BeFree 24608419 Detail
0.006 age related macular degeneration After multivariate adjustment for age, sex, educational level, smoking, BMI, lip... BeFree 24608419 Detail
<0.001 Diabetes After multivariate adjustment for age, sex, educational level, smoking, BMI, lip... BeFree 24608419 Detail
Annotation

Annotations

DescrptionSourceLinks
The LIPC promoter variants rs493258 and rs10468017 were associated with advanced AMD in two independ... DisGeNET Detail
After multivariate adjustment for age, sex, educational level, smoking, BMI, lipid-lowering medicati... DisGeNET Detail
After multivariate adjustment for age, sex, educational level, smoking, BMI, lipid-lowering medicati... DisGeNET Detail
After multivariate adjustment for age, sex, educational level, smoking, BMI, lipid-lowering medicati... DisGeNET Detail
After multivariate adjustment for age, sex, educational level, smoking, BMI, lipid-lowering medicati... DisGeNET Detail
After multivariate adjustment for age, sex, educational level, smoking, BMI, lipid-lowering medicati... DisGeNET Detail
After multivariate adjustment for age, sex, educational level, smoking, BMI, lipid-lowering medicati... DisGeNET Detail
After multivariate adjustment for age, sex, educational level, smoking, BMI, lipid-lowering medicati... DisGeNET Detail
After multivariate adjustment for age, sex, educational level, smoking, BMI, lipid-lowering medicati... DisGeNET Detail
Gene
-
dbSNP
rs493258 dbSNP
Genome
hg19
Position
chr15:58,687,880-58,687,880
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))
rs493258
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1912
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3205
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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