chr19:45422946:A>G Detail (hg19)

Information

Genome

Assembly Position
hg19 chr19:45,422,946-45,422,946
hg38 chr19:44,919,689-44,919,689 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:0.108
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
0.152 Alzheimer's disease [Genome-wide association analysis of age-at-onset in Alzheimer\'s disease.] GAD 22005931 Detail
<0.001 Coronary Arteriosclerosis SNPs rs6700896 in LEPR (OR, 1.06; 95% CI, 1.02 to 1.09; per minor allele), rs453... BeFree 19567438 Detail
0.152 Alzheimer's disease Genome-wide association analysis of age-at-onset in Alzheimer's disease. GWASCAT 22005931 Detail
0.123 Impaired cognition A genome-wide scan for common variants affecting the rate of age-related cogniti... GWASCAT 22054870 Detail
0.152 Alzheimer's disease Genome-wide association study of Alzheimer's disease. GWASCAT 22832961 Detail
<0.001 Coronary heart disease SNPs rs6700896 in LEPR (OR, 1.06; 95% CI, 1.02 to 1.09; per minor allele), rs453... BeFree 19567438 Detail
0.002 Coronary Arteriosclerosis SNPs rs6700896 in LEPR (OR, 1.06; 95% CI, 1.02 to 1.09; per minor allele), rs453... BeFree 19567438 Detail
0.152 Alzheimer's disease [This study provides empirical support for the suggestion that the APOE locus is... GAD 17474819 Detail
0.152 Alzheimer's disease [Unadjusted, SNP RS4420638 within APOC1 was strongly associated with AD due enti... GAD 17998437 Detail
0.120 age related macular degeneration Seven new loci associated with age-related macular degeneration. GWASCAT 23455636 Detail
0.260 Coronary heart disease SNPs rs6700896 in LEPR (OR, 1.06; 95% CI, 1.02 to 1.09; per minor allele), rs453... BeFree 19567438 Detail
0.127 Coronary heart disease SNPs rs6700896 in LEPR (OR, 1.06; 95% CI, 1.02 to 1.09; per minor allele), rs453... BeFree 19567438 Detail
0.069 Coronary Arteriosclerosis SNPs rs6700896 in LEPR (OR, 1.06; 95% CI, 1.02 to 1.09; per minor allele), rs453... BeFree 19567438 Detail
0.152 Alzheimer's disease A high-density whole-genome association study reveals that APOE is the major sus... GWASCAT 17474819 Detail
0.152 Alzheimer's disease Sorl1 as an Alzheimer's disease predisposition gene? GWASCAT 17975299 Detail
0.152 Alzheimer's disease Unadjusted, SNP RS4420638 within APOC1 was strongly associated with AD due entir... GWASCAT 17998437 Detail
0.120 Mental deterioration A genome-wide scan for common variants affecting the rate of age-related cogniti... GWASCAT 22054870 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001645.3(APOC1):c.*459A>G AND not provided ClinVar Detail
[Genome-wide association analysis of age-at-onset in Alzheimer\'s disease.] DisGeNET Detail
SNPs rs6700896 in LEPR (OR, 1.06; 95% CI, 1.02 to 1.09; per minor allele), rs4537545 in IL6R (OR, 0.... DisGeNET Detail
Genome-wide association analysis of age-at-onset in Alzheimer's disease. DisGeNET Detail
A genome-wide scan for common variants affecting the rate of age-related cognitive decline. DisGeNET Detail
Genome-wide association study of Alzheimer's disease. DisGeNET Detail
SNPs rs6700896 in LEPR (OR, 1.06; 95% CI, 1.02 to 1.09; per minor allele), rs4537545 in IL6R (OR, 0.... DisGeNET Detail
SNPs rs6700896 in LEPR (OR, 1.06; 95% CI, 1.02 to 1.09; per minor allele), rs4537545 in IL6R (OR, 0.... DisGeNET Detail
[This study provides empirical support for the suggestion that the APOE locus is the major susceptib... DisGeNET Detail
[Unadjusted, SNP RS4420638 within APOC1 was strongly associated with AD due entirely to linkage dise... DisGeNET Detail
Seven new loci associated with age-related macular degeneration. DisGeNET Detail
SNPs rs6700896 in LEPR (OR, 1.06; 95% CI, 1.02 to 1.09; per minor allele), rs4537545 in IL6R (OR, 0.... DisGeNET Detail
SNPs rs6700896 in LEPR (OR, 1.06; 95% CI, 1.02 to 1.09; per minor allele), rs4537545 in IL6R (OR, 0.... DisGeNET Detail
SNPs rs6700896 in LEPR (OR, 1.06; 95% CI, 1.02 to 1.09; per minor allele), rs4537545 in IL6R (OR, 0.... DisGeNET Detail
A high-density whole-genome association study reveals that APOE is the major susceptibility gene for... DisGeNET Detail
Sorl1 as an Alzheimer's disease predisposition gene? DisGeNET Detail
Unadjusted, SNP RS4420638 within APOC1 was strongly associated with AD due entirely to linkage diseq... DisGeNET Detail
A genome-wide scan for common variants affecting the rate of age-related cognitive decline. DisGeNET Detail
Gene
-
dbSNP
rs4420638 dbSNP
Genome
hg19
Position
chr19:45,422,946-45,422,946
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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))
rs4420638
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1085
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1819
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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