chr9:133263862:A>T Detail (hg38) (ABO)

Information

Genome

Assembly Position
hg19 chr9:136,139,265-136,139,265 View the variant detail on this assembly version.
hg38 chr9:133,263,862-133,263,862

HGVS

Type Transcript Protein
RefSeq NM_020469.2:c.29-1694T>A
Ensemble ENST00000538324.2:c.29-1694T>A
ENST00000611156.4:c.29-1694T>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 110300 OMIM
HGNC 79 HGNC
Ensembl ENSG00000175164 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
0.129 Pancreatic Neoplasm NA GAD Detail
0.121 obesity Identified genome-wide significant loci: 1) corroborated genes implicated in oth... GWASCAT 23251661 Detail
0.005 Alkaline Phosphatase Adverse Event [Population-based genome-wide association studies reveal six loci influencing pl... GAD 18940312 Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
Identified genome-wide significant loci: 1) corroborated genes implicated in other studies (MTNR1B, ... DisGeNET Detail
[Population-based genome-wide association studies reveal six loci influencing plasma levels of liver... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs657152 dbSNP
Genome
hg38
Position
chr9:133,263,862-133,263,862
Variant Type
snv
Reference Allele
A
Alternative Allele
T
Genome browser