chr9:100459578:T>G Detail (hg19) (XPA)

Information

Genome

Assembly Position
hg19 chr9:100,459,578-100,459,578
hg38 chr9:97,697,296-97,697,296 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000380.3:c.-4A>C
Ensemble ENST00000375128.5:c.-4A>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 611153 OMIM
HGNC 12814 HGNC
Ensembl ENSG00000136936 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant 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 lymphoma Herein we performed a case-control study evaluating the influence of three singl... BeFree 23818366 Detail
0.003 lymphoma Herein we performed a case-control study evaluating the influence of three singl... BeFree 23818366 Detail
0.136 lymphoma Herein we performed a case-control study evaluating the influence of three singl... BeFree 23818366 Detail
0.018 breast carcinoma Our findings provide clear evidence that XRCC1 gene rs25487 and XPA gene rs18009... BeFree 24642895 Detail
0.084 Malignant neoplasm of breast Moreover, the T-G (including rs2808668 and rs1800975) haplotype in XPA combined ... BeFree 21751184 Detail
0.014 squamous cell carcinoma Although smoking is the dominant risk factor of lung cancer, XPA -4G&gt;A (rs180... BeFree 21195504 Detail
0.098 Malignant neoplasm of breast Our findings provide clear evidence that XRCC1 gene rs25487 and XPA gene rs18009... BeFree 24642895 Detail
0.008 breast carcinoma Moreover, the T-G (including rs2808668 and rs1800975) haplotype in XPA combined ... BeFree 21751184 Detail
0.001 Non-small cell lung carcinoma Although smoking is the dominant risk factor of lung cancer, XPA -4G&gt;A (rs180... BeFree 21195504 Detail
0.036 Malignant neoplasm of lung XPA gene rs1800975 single nucleotide polymorphism and lung cancer risk: a meta-a... BeFree 24696258 Detail
0.003 Carcinoma of lung XPA gene rs1800975 single nucleotide polymorphism and lung cancer risk: a meta-a... BeFree 24696258 Detail
0.006 Malignant neoplasm of breast Our findings provide clear evidence that XRCC1 gene rs25487 and XPA gene rs18009... BeFree 24642895 Detail
0.006 Malignant neoplasm of breast Moreover, the T-G (including rs2808668 and rs1800975) haplotype in XPA combined ... BeFree 21751184 Detail
<0.001 breast carcinoma Our findings provide clear evidence that XRCC1 gene rs25487 and XPA gene rs18009... BeFree 24642895 Detail
<0.001 breast carcinoma Moreover, the T-G (including rs2808668 and rs1800975) haplotype in XPA combined ... BeFree 21751184 Detail
Annotation

Annotations

DescrptionSourceLinks
Herein we performed a case-control study evaluating the influence of three single nucleotide polymor... DisGeNET Detail
Herein we performed a case-control study evaluating the influence of three single nucleotide polymor... DisGeNET Detail
Herein we performed a case-control study evaluating the influence of three single nucleotide polymor... DisGeNET Detail
Our findings provide clear evidence that XRCC1 gene rs25487 and XPA gene rs1800975 might exert both ... DisGeNET Detail
Moreover, the T-G (including rs2808668 and rs1800975) haplotype in XPA combined with the ERCC2 T all... DisGeNET Detail
Although smoking is the dominant risk factor of lung cancer, XPA -4G&gt;A (rs1800975) is also associ... DisGeNET Detail
Our findings provide clear evidence that XRCC1 gene rs25487 and XPA gene rs1800975 might exert both ... DisGeNET Detail
Moreover, the T-G (including rs2808668 and rs1800975) haplotype in XPA combined with the ERCC2 T all... DisGeNET Detail
Although smoking is the dominant risk factor of lung cancer, XPA -4G&gt;A (rs1800975) is also associ... DisGeNET Detail
XPA gene rs1800975 single nucleotide polymorphism and lung cancer risk: a meta-analysis. DisGeNET Detail
XPA gene rs1800975 single nucleotide polymorphism and lung cancer risk: a meta-analysis. DisGeNET Detail
Our findings provide clear evidence that XRCC1 gene rs25487 and XPA gene rs1800975 might exert both ... DisGeNET Detail
Moreover, the T-G (including rs2808668 and rs1800975) haplotype in XPA combined with the ERCC2 T all... DisGeNET Detail
Our findings provide clear evidence that XRCC1 gene rs25487 and XPA gene rs1800975 might exert both ... DisGeNET Detail
Moreover, the T-G (including rs2808668 and rs1800975) haplotype in XPA combined with the ERCC2 T all... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg19
Position
chr9:100,459,578-100,459,578
Variant Type
snv
Reference Allele
T
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8042
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
109042
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
0
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
9.170778232240788E-6
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