chr5:31532638:G>C Detail (hg19) (C5orf22)

Information

Genome

Assembly Position
hg19 chr5:31,532,638-31,532,638
hg38 chr5:31,532,531-31,532,531 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_018356.2:c.81+58G>C
Ensemble ENST00000325366.14:c.81+58G>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.013
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
Type Database ID Link
Gene MIM
HGNC 25639 HGNC
Ensembl ENSG00000082213 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv20683274 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 T-Cell Lymphoma Among the 13 SNPs, four (DROSHA rs6877842, DICER rs3742330, mir149 rs2292832, an... BeFree 24563077 Detail
<0.001 T-Cell Lymphoma Among the 13 SNPs, four (DROSHA rs6877842, DICER rs3742330, mir149 rs2292832, an... BeFree 24563077 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
<0.001 chronic lymphocytic leukemia We found nine statistically significant associations with CLL risk after FDR cor... BeFree 25793711 Detail
<0.001 Turner syndrome A haplotype-based analysis of seven polymorphisms of the microRNA machinery gene... BeFree 23549446 Detail
<0.001 Turner syndrome A haplotype-based analysis of seven polymorphisms of the microRNA machinery gene... BeFree 23549446 Detail
<0.001 Ovarian Failure, Premature A haplotype-based analysis of seven polymorphisms of the microRNA machinery gene... BeFree 23549446 Detail
<0.001 Turner syndrome A haplotype-based analysis of seven polymorphisms of the microRNA machinery gene... BeFree 23549446 Detail
0.003 Ovarian Failure, Premature A haplotype-based analysis of seven polymorphisms of the microRNA machinery gene... BeFree 23549446 Detail
<0.001 Turner syndrome A haplotype-based analysis of seven polymorphisms of the microRNA machinery gene... BeFree 23549446 Detail
<0.001 Ovarian Failure, Premature A haplotype-based analysis of seven polymorphisms of the microRNA machinery gene... BeFree 23549446 Detail
<0.001 Ovarian Failure, Premature A haplotype-based analysis of seven polymorphisms of the microRNA machinery gene... BeFree 23549446 Detail
Annotation

Annotations

DescrptionSourceLinks
Among the 13 SNPs, four (DROSHA rs6877842, DICER rs3742330, mir149 rs2292832, and mir499 rs3746444) ... DisGeNET Detail
Among the 13 SNPs, four (DROSHA rs6877842, DICER rs3742330, mir149 rs2292832, and mir499 rs3746444) ... 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
We found nine statistically significant associations with CLL risk after FDR correction, seven in mi... DisGeNET Detail
A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene inte... DisGeNET Detail
A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene inte... DisGeNET Detail
A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene inte... DisGeNET Detail
A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene inte... DisGeNET Detail
A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene inte... DisGeNET Detail
A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene inte... DisGeNET Detail
A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene inte... DisGeNET Detail
A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene inte... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs6877842 dbSNP
Genome
hg19
Position
chr5:31,532,638-31,532,638
Variant Type
snv
Reference Allele
G
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))
rs6877842
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0133
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
223
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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