chr16:27312083:C>T Detail (hg38)

Information

Genome

Assembly Position
hg19 chr16:27,323,404-27,323,404 View the variant detail on this assembly version.
hg38 chr16:27,312,083-27,312,083

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.265
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 stomach carcinoma Interleukin-4 receptor (IL-4R) variant rs2107356 presented negative correlations... BeFree 21780194 Detail
0.003 Malignant neoplasm of stomach Interleukin-4 receptor (IL-4R) variant rs2107356 presented negative correlations... BeFree 21780194 Detail
Annotation

Annotations

DescrptionSourceLinks
Interleukin-4 receptor (IL-4R) variant rs2107356 presented negative correlations to E-selectin varia... DisGeNET Detail
Interleukin-4 receptor (IL-4R) variant rs2107356 presented negative correlations to E-selectin varia... DisGeNET Detail
Gene
-
dbSNP
rs2107356 dbSNP
Genome
hg38
Position
chr16:27,312,083-27,312,083
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))
rs2107356
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2652
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4445
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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