chr1:100718269:T>C Detail (hg38)

Information

Genome

Assembly Position
hg19 chr1:101,183,825-101,183,825 View the variant detail on this assembly version.
hg38 chr1:100,718,269-100,718,269

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.149
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 Lymphoma, Large-Cell, Follicular Interleukin 13 (IL13) Ex4+98A&gt;G SNP (rs20541) was associated with decreased N... BeFree 19533685 Detail
<0.001 Lymphoma, Non-Hodgkin Interleukin 13 (IL13) Ex4+98A&gt;G SNP (rs20541) was associated with decreased N... BeFree 19533685 Detail
<0.001 Lymphoma, Large-Cell, Follicular Interleukin 13 (IL13) Ex4+98A&gt;G SNP (rs20541) was associated with decreased N... BeFree 19533685 Detail
0.003 Lymphoma, Non-Hodgkin Interleukin 13 (IL13) Ex4+98A&gt;G SNP (rs20541) was associated with decreased N... BeFree 19533685 Detail
Annotation

Annotations

DescrptionSourceLinks
Interleukin 13 (IL13) Ex4+98A&gt;G SNP (rs20541) was associated with decreased NHL risk (OR(AG/AA) =... DisGeNET Detail
Interleukin 13 (IL13) Ex4+98A&gt;G SNP (rs20541) was associated with decreased NHL risk (OR(AG/AA) =... DisGeNET Detail
Interleukin 13 (IL13) Ex4+98A&gt;G SNP (rs20541) was associated with decreased NHL risk (OR(AG/AA) =... DisGeNET Detail
Interleukin 13 (IL13) Ex4+98A&gt;G SNP (rs20541) was associated with decreased NHL risk (OR(AG/AA) =... DisGeNET Detail
Gene
-
dbSNP
rs1041163 dbSNP
Genome
hg38
Position
chr1:100,718,269-100,718,269
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs1041163
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1491
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2499
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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