chr9:8879118:C>T Detail (hg38) (PTPRD)

Information

Genome

Assembly Position
hg19 chr9:8,879,118-8,879,118 View the variant detail on this assembly version.
hg38 chr9:8,879,118-8,879,118

HGVS

Type Transcript Protein
RefSeq NM_002839.3:c.-104+139579G>A
Ensemble ENST00000381196.9:c.-104+139579G>A
ENST00000463477.5:c.-104+139579G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.153
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 601598 OMIM
HGNC 9668 HGNC
Ensembl ENSG00000153707 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv35427611 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
0.154 Diabetes Mellitus, Non-Insulin-Dependent The PPAR-γ2 gene rs1801282 polymorphism was significantly associated with type 2... BeFree 23147557 Detail
0.125 Diabetes Mellitus, Non-Insulin-Dependent The PPAR-γ2 gene rs1801282 polymorphism was significantly associated with type 2... BeFree 23147557 Detail
0.004 Diabetes Mellitus, Non-Insulin-Dependent The PPAR-γ2 gene rs1801282 polymorphism was significantly associated with type 2... BeFree 23147557 Detail
0.003 diabetes mellitus Diabetes risk alleles in PPAR-γ2 (rs1801282) and PTPRD (rs17584499) are associat... BeFree 23147557 Detail
0.008 Diabetes Diabetes risk alleles in PPAR-γ2 (rs1801282) and PTPRD (rs17584499) are associat... BeFree 23147557 Detail
0.016 diabetes mellitus Diabetes risk alleles in PPAR-γ2 (rs1801282) and PTPRD (rs17584499) are associat... BeFree 23147557 Detail
0.125 Diabetes Mellitus, Non-Insulin-Dependent A genome-wide association study identifies susceptibility variants for type 2 di... GWASCAT 20174558 Detail
<0.001 Diabetes Diabetes risk alleles in PPAR-γ2 (rs1801282) and PTPRD (rs17584499) are associat... BeFree 23147557 Detail
0.125 Diabetes Mellitus, Non-Insulin-Dependent [A genome-wide association study identifies susceptibility variants for type 2 d... GAD 20174558 Detail
Annotation

Annotations

DescrptionSourceLinks
The PPAR-γ2 gene rs1801282 polymorphism was significantly associated with type 2 diabetes susceptibi... DisGeNET Detail
The PPAR-γ2 gene rs1801282 polymorphism was significantly associated with type 2 diabetes susceptibi... DisGeNET Detail
The PPAR-γ2 gene rs1801282 polymorphism was significantly associated with type 2 diabetes susceptibi... DisGeNET Detail
Diabetes risk alleles in PPAR-γ2 (rs1801282) and PTPRD (rs17584499) are associated with pioglitazone... DisGeNET Detail
Diabetes risk alleles in PPAR-γ2 (rs1801282) and PTPRD (rs17584499) are associated with pioglitazone... DisGeNET Detail
Diabetes risk alleles in PPAR-γ2 (rs1801282) and PTPRD (rs17584499) are associated with pioglitazone... DisGeNET Detail
A genome-wide association study identifies susceptibility variants for type 2 diabetes in Han Chines... DisGeNET Detail
Diabetes risk alleles in PPAR-γ2 (rs1801282) and PTPRD (rs17584499) are associated with pioglitazone... DisGeNET Detail
[A genome-wide association study identifies susceptibility variants for type 2 diabetes in Han Chine... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs17584499 dbSNP
Genome
hg38
Position
chr9:8,879,118-8,879,118
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))
rs17584499
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1533
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2569
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser