chr16:56959412:C>A Detail (hg38)

Information

Genome

Assembly Position
hg19 chr16:56,993,324-56,993,324 View the variant detail on this assembly version.
hg38 chr16:56,959,412-56,959,412

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.206
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance not provided
Review star
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
not provided no assertion provided not provided not provided Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
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
0.005 Metabolic syndrome X [Qualitative and quantitative pleiotropic tests on pairs of traits indicate that... GAD 21386085 Detail
<0.001 Overweight We analyzed the interaction between the CETP variant rs3764261 and dietary inter... BeFree 25548261 Detail
0.005 age related macular degeneration [Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-rel... GAD 21665990 Detail
0.005 age related macular degeneration [Genetic variants near TIMP3 and high-density lipoprotein-associated loci influe... GAD 20385819 Detail
Annotation

Annotations

DescrptionSourceLinks
NC_000016.10:g.56959412C>A AND not provided ClinVar 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
[Qualitative and quantitative pleiotropic tests on pairs of traits indicate that a small portion of ... DisGeNET Detail
We analyzed the interaction between the CETP variant rs3764261 and dietary interventions on changes ... DisGeNET Detail
[Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degener... DisGeNET Detail
[Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility t... DisGeNET Detail
Gene
-
dbSNP
rs3764261 dbSNP
Genome
hg38
Position
chr16:56,959,412-56,959,412
Variant Type
snv
Reference Allele
C
Alternative Allele
A
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))
rs3764261
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2055
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3445
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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