chr15:58386313:C>T Detail (hg38)

Information

Genome

Assembly Position
hg19 chr15:58,678,512-58,678,512 View the variant detail on this assembly version.
hg38 chr15:58,386,313-58,386,313

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.204
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
<0.001 Drusen Controlling for demographic and behavioral factors and other SNPs, the TT genoty... BeFree 22247473 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
0.014 age related macular degeneration [Associations of smoking, body mass index, dietary lutein, and the LIPC gene var... GAD 21139980 Detail
0.128 age related macular degeneration After multivariate adjustment for age, sex, educational level, smoking, BMI, lip... BeFree 24608419 Detail
0.014 age related macular degeneration Associations of smoking, body mass index, dietary lutein, and the LIPC gene vari... BeFree 21139980 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
0.010 age related macular degeneration Associations of LIPC rs10468017, CETP and ABCA1 polymorphisms with AMD did not r... BeFree 24223199 Detail
Annotation

Annotations

DescrptionSourceLinks
The LIPC promoter variants rs493258 and rs10468017 were associated with advanced AMD in two independ... DisGeNET Detail
Controlling for demographic and behavioral factors and other SNPs, the TT genotype of rs10468017 in ... 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
[Associations of smoking, body mass index, dietary lutein, and the LIPC gene variant rs10468017 with... DisGeNET Detail
After multivariate adjustment for age, sex, educational level, smoking, BMI, lipid-lowering medicati... DisGeNET Detail
Associations of smoking, body mass index, dietary lutein, and the LIPC gene variant rs10468017 with ... 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
Associations of LIPC rs10468017, CETP and ABCA1 polymorphisms with AMD did not reach statistical sig... DisGeNET Detail
Gene
-
dbSNP
rs10468017 dbSNP
Genome
hg38
Position
chr15:58,386,313-58,386,313
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs10468017
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.204
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3419
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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