chr3:12424934:A>G Detail (hg38) (PPARG)

Information

Genome

Assembly Position
hg19 chr3:12,466,433-12,466,433 View the variant detail on this assembly version.
hg38 chr3:12,424,934-12,424,934

HGVS

Type Transcript Protein
RefSeq NM_015869.4:c.1270+7780A>G
NM_138712.3:c.1180+7780A>G
NM_005037.5:c.1180+7780A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.445
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 tgv11499075 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
0.145 Metabolic syndrome X Analysis of the haplotype and linkage disequilibrium of PPARγ gene polymorphisms... BeFree 25366759 Detail
Annotation

Annotations

DescrptionSourceLinks
Analysis of the haplotype and linkage disequilibrium of PPARγ gene polymorphisms rs3856806, rs124902... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1175543 dbSNP
Genome
hg38
Position
chr3:12,424,934-12,424,934
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))
rs1175543
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4449
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7457
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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