chr22:41667677:A>G Detail (hg38)

Information

Genome

Assembly Position
hg19 chr22:42,063,681-42,063,681 View the variant detail on this assembly version.
hg38 chr22:41,667,677-41,667,677

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.949
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
0.003 breast carcinoma Sensitivity analyses were also performed.The rs2267437 polymorphism was associat... BeFree 25569644 Detail
0.015 Malignant neoplasm of breast Sensitivity analyses were also performed.The rs2267437 polymorphism was associat... BeFree 25569644 Detail
0.001 renal cell carcinoma Sensitivity analyses were also performed.The rs2267437 polymorphism was associat... BeFree 25569644 Detail
<0.001 liver carcinoma Sensitivity analyses were also performed.The rs2267437 polymorphism was associat... BeFree 25569644 Detail
0.015 Malignant neoplasm of breast This meta-analysis suggests that the rs3835 G&gt;A and rs828907 G&gt;T in XRCC5 ... BeFree 23098447 Detail
0.003 breast carcinoma This meta-analysis suggests that the rs3835 G&gt;A and rs828907 G&gt;T in XRCC5 ... BeFree 23098447 Detail
Annotation

Annotations

DescrptionSourceLinks
Sensitivity analyses were also performed.The rs2267437 polymorphism was associated with a significan... DisGeNET Detail
Sensitivity analyses were also performed.The rs2267437 polymorphism was associated with a significan... DisGeNET Detail
Sensitivity analyses were also performed.The rs2267437 polymorphism was associated with a significan... DisGeNET Detail
Sensitivity analyses were also performed.The rs2267437 polymorphism was associated with a significan... DisGeNET Detail
This meta-analysis suggests that the rs3835 G&gt;A and rs828907 G&gt;T in XRCC5 gene, rs6002421 (A&g... DisGeNET Detail
This meta-analysis suggests that the rs3835 G&gt;A and rs828907 G&gt;T in XRCC5 gene, rs6002421 (A&g... DisGeNET Detail
Gene
-
dbSNP
rs132793 dbSNP
Genome
hg38
Position
chr22:41,667,677-41,667,677
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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))
rs132793
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.9486
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
15899
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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