chr9:133629184:A>G Detail (hg19) (ABL1)

Information

Genome

Assembly Position
hg19 chr9:133,629,184-133,629,184
hg38 chr9:130,753,797-130,753,797 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_007313.2:c.136+39342A>G
Ensemble ENST00000372348.9:c.136+39342A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.449
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 189980 OMIM
HGNC 76 HGNC
Ensembl ENSG00000097007 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv37784472 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 Adenocarcinoma Of Esophagus Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS... BeFree 21472143 Detail
<0.001 Adenocarcinoma Of Esophagus Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS... BeFree 21472143 Detail
<0.001 Adenocarcinoma Of Esophagus Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS... BeFree 21472143 Detail
<0.001 Adenocarcinoma Of Esophagus Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS... BeFree 21472143 Detail
<0.001 Adenocarcinoma Of Esophagus Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS... BeFree 21472143 Detail
<0.001 Adenocarcinoma Of Esophagus Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS... BeFree 21472143 Detail
Annotation

Annotations

DescrptionSourceLinks
Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2,... DisGeNET Detail
Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2,... DisGeNET Detail
Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2,... DisGeNET Detail
Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2,... DisGeNET Detail
Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2,... DisGeNET Detail
Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2,... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs4571835 dbSNP
Genome
hg19
Position
chr9:133,629,184-133,629,184
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))
rs4571835
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4495
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7534
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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