chr3:12353198:C>G Detail (hg19) (PPARG)

Information

Genome

Assembly Position
hg19 chr3:12,353,198-12,353,198
hg38 chr3:12,311,699-12,311,699 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_138712.3:c.-82-681C>G
NM_005037.5:c.-9+23679C>G
Ensemble ENST00000309576.11:c.-82-681C>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.252
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 601487 OMIM
HGNC 9236 HGNC
Ensembl ENSG00000132170 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv11496699 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
0.002 Chronic Kidney Diseases Subsequent multivariable logistic regression analysis with adjustment for covari... BeFree 19282863 Detail
<0.001 Chronic Kidney Diseases Subsequent multivariable logistic regression analysis with adjustment for covari... BeFree 19282863 Detail
<0.001 Chronic Kidney Diseases Subsequent multivariable logistic regression analysis with adjustment for covari... BeFree 19282863 Detail
<0.001 Chronic Kidney Diseases Subsequent multivariable logistic regression analysis with adjustment for covari... BeFree 19282863 Detail
Annotation

Annotations

DescrptionSourceLinks
Subsequent multivariable logistic regression analysis with adjustment for covariates as well as a st... DisGeNET Detail
Subsequent multivariable logistic regression analysis with adjustment for covariates as well as a st... DisGeNET Detail
Subsequent multivariable logistic regression analysis with adjustment for covariates as well as a st... DisGeNET Detail
Subsequent multivariable logistic regression analysis with adjustment for covariates as well as a st... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs10865710 dbSNP
Genome
hg19
Position
chr3:12,353,198-12,353,198
Variant Type
snv
Reference Allele
C
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))
rs10865710
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2525
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4232
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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