chr6:52050493:C>T Detail (hg19)

Information

Genome

Assembly Position
hg19 chr6:52,050,493-52,050,493
hg38 chr6:52,185,695-52,185,695 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:0.399
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
<0.001 Impaired cognition In the present study, we examined whether interleukin-10 (IL-10, 1082G/A), inter... BeFree 23485736 Detail
<0.001 Impaired cognition Based on our study, polymorphisms in immune/inflammatory-related genes such as I... BeFree 23485736 Detail
Annotation

Annotations

DescrptionSourceLinks
In the present study, we examined whether interleukin-10 (IL-10, 1082G/A), interleukin-17A (IL-17A) ... DisGeNET Detail
Based on our study, polymorphisms in immune/inflammatory-related genes such as IL-17A rs8193036 and ... DisGeNET Detail
Gene
-
dbSNP
rs8193036 dbSNP
Genome
hg19
Position
chr6:52,050,493-52,050,493
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))
rs8193036
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3989
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6685
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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