chr8:129021179:G>A Detail (hg19)

Information

Genome

Assembly Position
hg19 chr8:129,021,179-129,021,179
hg38 chr8:128,008,933-128,008,933 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:0.694
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.715

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 chronic lymphocytic leukemia We found nine statistically significant associations with CLL risk after FDR cor... BeFree 25793711 Detail
<0.001 chronic lymphocytic leukemia We found nine statistically significant associations with CLL risk after FDR cor... BeFree 25793711 Detail
<0.001 chronic lymphocytic leukemia We found nine statistically significant associations with CLL risk after FDR cor... BeFree 25793711 Detail
<0.001 chronic lymphocytic leukemia We found nine statistically significant associations with CLL risk after FDR cor... BeFree 25793711 Detail
<0.001 chronic lymphocytic leukemia We found nine statistically significant associations with CLL risk after FDR cor... BeFree 25793711 Detail
<0.001 chronic lymphocytic leukemia We found nine statistically significant associations with CLL risk after FDR cor... BeFree 25793711 Detail
<0.001 chronic lymphocytic leukemia We found nine statistically significant associations with CLL risk after FDR cor... BeFree 25793711 Detail
<0.001 chronic lymphocytic leukemia We found nine statistically significant associations with CLL risk after FDR cor... BeFree 25793711 Detail
Annotation

Annotations

DescrptionSourceLinks
We found nine statistically significant associations with CLL risk after FDR correction, seven in mi... DisGeNET Detail
We found nine statistically significant associations with CLL risk after FDR correction, seven in mi... DisGeNET Detail
We found nine statistically significant associations with CLL risk after FDR correction, seven in mi... DisGeNET Detail
We found nine statistically significant associations with CLL risk after FDR correction, seven in mi... DisGeNET Detail
We found nine statistically significant associations with CLL risk after FDR correction, seven in mi... DisGeNET Detail
We found nine statistically significant associations with CLL risk after FDR correction, seven in mi... DisGeNET Detail
We found nine statistically significant associations with CLL risk after FDR correction, seven in mi... DisGeNET Detail
We found nine statistically significant associations with CLL risk after FDR correction, seven in mi... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2114358 dbSNP
Genome
hg19
Position
chr8:129,021,179-129,021,179
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs2114358
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6942
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
11634
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8606
East Asian Allele Counts (ExAC)
6151
East Asian Heterozygous Counts (ExAC)
1753
East Asian Homozygous Counts (ExAC)
2199
East Asian Allele Frequency (ExAC)
0.7147339065768069
Chromosome Counts in All Race (ExAC)
120200
Allele Counts in All Race (ExAC)
75172
Heterozygous Counts in All Race (ExAC)
27748
Homozygous Counts in All Race (ExAC)
23712
Allele Frequency in All Race (ExAC)
0.6253910149750416
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