chr22:42016699:C>G Detail (hg19) (DESI1)

Information

Genome

Assembly Position
hg19 chr22:42,016,699-42,016,699
hg38 chr22:41,620,695-41,620,695 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_015704.2:c.88+57G>C
Ensemble ENST00000263256.7:c.88+57G>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.359
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 614637 OMIM
HGNC 24577 HGNC
Ensembl ENSG00000100418 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv66031991 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
0.003 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
0.001 Non-small cell lung carcinoma The authors genotyped 5 potentially functional SNPs-x-ray repair complementing d... BeFree 21717429 Detail
<0.001 Non-small cell lung carcinoma The authors genotyped 5 potentially functional SNPs-x-ray repair complementing d... BeFree 21717429 Detail
<0.001 Non-small cell lung carcinoma The authors genotyped 5 potentially functional SNPs-x-ray repair complementing d... BeFree 21717429 Detail
0.002 squamous cell carcinoma [Acute normal tissue reactions in head-and-neck cancer patients treated with IMR... GAD 19251090 Detail
0.003 breast carcinoma This meta-analysis suggests that the XRCC6 rs2267437 polymorphism may affect bre... BeFree 23745766 Detail
0.002 Head and Neck Neoplasms [Acute normal tissue reactions in head-and-neck cancer patients treated with IMR... GAD 19251090 Detail
0.015 Malignant neoplasm of breast This meta-analysis suggests that the XRCC6 rs2267437 polymorphism may affect bre... BeFree 23745766 Detail
0.001 Squamous cell carcinoma of esophagus In conclusion, both the CG carriers/G allele carriers of rs2267437 (XRCC6) and t... BeFree 25702660 Detail
0.003 adenocarcinoma [Acute normal tissue reactions in head-and-neck cancer patients treated with IMR... GAD 19251090 Detail
0.002 Radiodermatitis [Acute normal tissue reactions in head-and-neck cancer patients treated with IMR... GAD 19251090 Detail
0.003 breast carcinoma Our data provide a possible molecular explanation for the associations observed ... BeFree 22833453 Detail
0.002 Deglutition Disorders [Acute normal tissue reactions in head-and-neck cancer patients treated with IMR... GAD 19251090 Detail
0.015 Malignant neoplasm of breast Our data provide a possible molecular explanation for the associations observed ... BeFree 22833453 Detail
<0.001 Squamous cell carcinoma of esophagus In conclusion, both the CG carriers/G allele carriers of rs2267437 (XRCC6) and t... BeFree 25702660 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
The authors genotyped 5 potentially functional SNPs-x-ray repair complementing defective repair in C... DisGeNET Detail
The authors genotyped 5 potentially functional SNPs-x-ray repair complementing defective repair in C... DisGeNET Detail
The authors genotyped 5 potentially functional SNPs-x-ray repair complementing defective repair in C... DisGeNET Detail
[Acute normal tissue reactions in head-and-neck cancer patients treated with IMRT: influence of dose... DisGeNET Detail
This meta-analysis suggests that the XRCC6 rs2267437 polymorphism may affect breast cancer susceptib... DisGeNET Detail
[Acute normal tissue reactions in head-and-neck cancer patients treated with IMRT: influence of dose... DisGeNET Detail
This meta-analysis suggests that the XRCC6 rs2267437 polymorphism may affect breast cancer susceptib... DisGeNET Detail
In conclusion, both the CG carriers/G allele carriers of rs2267437 (XRCC6) and the haplotype AT/CC e... DisGeNET Detail
[Acute normal tissue reactions in head-and-neck cancer patients treated with IMRT: influence of dose... DisGeNET Detail
[Acute normal tissue reactions in head-and-neck cancer patients treated with IMRT: influence of dose... DisGeNET Detail
Our data provide a possible molecular explanation for the associations observed between the KU70 reg... DisGeNET Detail
[Acute normal tissue reactions in head-and-neck cancer patients treated with IMRT: influence of dose... DisGeNET Detail
Our data provide a possible molecular explanation for the associations observed between the KU70 reg... DisGeNET Detail
In conclusion, both the CG carriers/G allele carriers of rs2267437 (XRCC6) and the haplotype AT/CC e... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2267437 dbSNP
Genome
hg19
Position
chr22:42,016,699-42,016,699
Variant Type
snv
Reference Allele
C
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))
rs2267437
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3588
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6014
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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