chr17:56358762:C>T Detail (hg19) (MPO, LOC106694315)

Information

Genome

Assembly Position
hg19 chr17:56,358,762-56,358,762
hg38 chr17:58,281,401-58,281,401 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 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 2007-02-01 no assertion criteria provided Alzheimer disease, susceptibility to germline Detail
protective 2007-02-01 no assertion criteria provided Lung cancer, protection against, in smokers germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.009 Carcinoma of lung We evaluated the role of tumor necrosis factor α (TNFA) rs1799724, interleukin 1... BeFree 24139238 Detail
0.078 Malignant neoplasm of lung We evaluated the role of tumor necrosis factor α (TNFA) rs1799724, interleukin 1... BeFree 24139238 Detail
Annotation

Annotations

DescrptionSourceLinks
NC_000017.11:g.58281401C>T AND Alzheimer disease, susceptibility to ClinVar Detail
NC_000017.11:g.58281401C>T AND Lung cancer, protection against, in smokers ClinVar Detail
We evaluated the role of tumor necrosis factor α (TNFA) rs1799724, interleukin 1β (IL1B) rs16944, IL... DisGeNET Detail
We evaluated the role of tumor necrosis factor α (TNFA) rs1799724, interleukin 1β (IL1B) rs16944, IL... DisGeNET Detail
Gene
-
dbSNP
rs2333227 dbSNP
Genome
hg19
Position
chr17:56,358,762-56,358,762
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))
rs2333227
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1082
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1814
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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