chr9:100452435:C>T Detail (hg19) (XPA)

Information

Genome

Assembly Position
hg19 chr9:100,452,435-100,452,435
hg38 chr9:97,690,153-97,690,153 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000380.3:c.284-514G>A
Ensemble ENST00000375128.5:c.284-514G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.506
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 611153 OMIM
HGNC 12814 HGNC
Ensembl ENSG00000136936 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv36959856 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
0.084 Malignant neoplasm of breast Moreover, the T-G (including rs2808668 and rs1800975) haplotype in XPA combined ... BeFree 21751184 Detail
0.008 breast carcinoma Moreover, the T-G (including rs2808668 and rs1800975) haplotype in XPA combined ... BeFree 21751184 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 Moreover, the T-G (including rs2808668 and rs1800975) haplotype in XPA combined ... BeFree 21751184 Detail
Annotation

Annotations

DescrptionSourceLinks
Moreover, the T-G (including rs2808668 and rs1800975) haplotype in XPA combined with the ERCC2 T all... DisGeNET Detail
Moreover, the T-G (including rs2808668 and rs1800975) haplotype in XPA combined with the ERCC2 T all... DisGeNET Detail
Moreover, the T-G (including rs2808668 and rs1800975) haplotype in XPA combined with the ERCC2 T all... DisGeNET Detail
Moreover, the T-G (including rs2808668 and rs1800975) haplotype in XPA combined with the ERCC2 T all... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2808668 dbSNP
Genome
hg19
Position
chr9:100,452,435-100,452,435
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs2808668
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5055
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8473
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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