chr19:7812733:A>G Detail (hg19) (CD209, LOC117307477)

Information

Genome

Assembly Position
hg19 chr19:7,812,733-7,812,733
hg38 chr19:7,747,847-7,747,847 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:0.039
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance protective; risk factor
Review star
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 2006-02-01 no assertion criteria provided Susceptibility to HIV infection germline Detail
protective 2006-02-01 no assertion criteria provided Dengue fever, protection against germline Detail
risk factor 2006-02-01 no assertion criteria provided Mycobacterium tuberculosis, susceptibility to germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Severe Dengue Two single nucleotide polymorphisms (SNPs), rs1801274 of FcγRIIa and rs4804803 o... BeFree 24911936 Detail
0.123 Dengue Fever A single nucleotide polymorphism (SNP) in the promoter region of CD209 (-336 A/G... BeFree 20470843 Detail
0.002 Virus Diseases Previously the severity and outcome of dengue fever and hepatitis C (diseases ca... BeFree 22061615 Detail
<0.001 Mucocutaneous Lymph Node Syndrome DC-SIGN (CD209) promoter -336 A/G (rs4804803) polymorphism associated with susce... BeFree 22629172 Detail
0.006 hepatitis C Previously the severity and outcome of dengue fever and hepatitis C (diseases ca... BeFree 22061615 Detail
0.126 Tuberculosis, Pulmonary CD209 promoter -336 A/G (rs4804803) polymorphism is associated with susceptibili... BeFree 23751770 Detail
0.123 Dengue Fever the rs4804803 SNP in the CD209 promoter contributed to susceptibility to dengue ... BeFree 21245921 Detail
0.005 Crohn Disease A functional variant in the CD209 gene, rs4804803, does not seem to be influenci... BeFree 18070336 Detail
0.123 Dengue Fever Previously the severity and outcome of dengue fever and hepatitis C (diseases ca... BeFree 22061615 Detail
<0.001 Severe Dengue the rs4804803 SNP in the CD209 promoter contributed to susceptibility to dengue ... BeFree 21245921 Detail
0.024 tuberculosis A single nucleotide polymorphism (SNP) in the promoter region of CD209 (-336 A/G... BeFree 20470843 Detail
Annotation

Annotations

DescrptionSourceLinks
NC_000019.10:g.7747847A>G AND Susceptibility to HIV infection ClinVar Detail
NC_000019.10:g.7747847A>G AND Dengue fever, protection against ClinVar Detail
NC_000019.10:g.7747847A>G AND Mycobacterium tuberculosis, susceptibility to ClinVar Detail
Two single nucleotide polymorphisms (SNPs), rs1801274 of FcγRIIa and rs4804803 of DC-SIGN, have been... DisGeNET Detail
A single nucleotide polymorphism (SNP) in the promoter region of CD209 (-336 A/G; rs4804803) affects... DisGeNET Detail
Previously the severity and outcome of dengue fever and hepatitis C (diseases caused by viruses from... DisGeNET Detail
DC-SIGN (CD209) promoter -336 A/G (rs4804803) polymorphism associated with susceptibility of Kawasak... DisGeNET Detail
Previously the severity and outcome of dengue fever and hepatitis C (diseases caused by viruses from... DisGeNET Detail
CD209 promoter -336 A/G (rs4804803) polymorphism is associated with susceptibility to pulmonary tube... DisGeNET Detail
the rs4804803 SNP in the CD209 promoter contributed to susceptibility to dengue infection and compli... DisGeNET Detail
A functional variant in the CD209 gene, rs4804803, does not seem to be influencing Crohn's disease s... DisGeNET Detail
Previously the severity and outcome of dengue fever and hepatitis C (diseases caused by viruses from... DisGeNET Detail
the rs4804803 SNP in the CD209 promoter contributed to susceptibility to dengue infection and compli... DisGeNET Detail
A single nucleotide polymorphism (SNP) in the promoter region of CD209 (-336 A/G; rs4804803) affects... DisGeNET Detail
Gene
-
dbSNP
rs4804803 dbSNP
Genome
hg19
Position
chr19:7,812,733-7,812,733
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))
rs4804803
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.039
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
654
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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