chr12:109205840:G>A Detail (hg38) (ACACB)

Information

Genome

Assembly Position
hg19 chr12:109,643,645-109,643,645 View the variant detail on this assembly version.
hg38 chr12:109,205,840-109,205,840

HGVS

Type Transcript Protein
RefSeq NM_001093.3:c.2914-870G>A
Ensemble ENST00000338432.12:c.2914-870G>A
ENST00000377848.7:c.2914-870G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.216
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 601557 OMIM
HGNC 85 HGNC
Ensembl ENSG00000076555 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv47191430 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 Diabetes Mellitus, Non-Insulin-Dependent Our meta-analysis supports that the ApoE ε2 allele and ACACB rs2268388 C&gt;T mi... BeFree 25262148 Detail
0.011 Kidney Diseases Our meta-analysis supports that the ApoE ε2 allele and ACACB rs2268388 C&gt;T mi... BeFree 25262148 Detail
<0.001 Kidney Diseases Our meta-analysis supports that the ApoE ε2 allele and ACACB rs2268388 C&gt;T mi... BeFree 25262148 Detail
0.004 Diabetes Mellitus, Non-Insulin-Dependent Our meta-analysis supports that the ApoE ε2 allele and ACACB rs2268388 C&gt;T mi... BeFree 25262148 Detail
<0.001 Kidney Diseases Our meta-analysis supports that the ApoE ε2 allele and ACACB rs2268388 C&gt;T mi... BeFree 25262148 Detail
0.221 Kidney Diseases ACACβ gene (rs2268388) and AGTR1 gene (rs5186) polymorphism and the risk of neph... BeFree 23081748 Detail
0.039 Diabetes Mellitus, Non-Insulin-Dependent ACACβ gene (rs2268388) and AGTR1 gene (rs5186) polymorphism and the risk of neph... BeFree 23081748 Detail
<0.001 Diabetic Nephropathy A large-scale genotyping analysis of gene-based single nucleotide polymorphisms ... BeFree 20168990 Detail
Annotation

Annotations

DescrptionSourceLinks
Our meta-analysis supports that the ApoE ε2 allele and ACACB rs2268388 C&gt;T might act as promotion... DisGeNET Detail
Our meta-analysis supports that the ApoE ε2 allele and ACACB rs2268388 C&gt;T might act as promotion... DisGeNET Detail
Our meta-analysis supports that the ApoE ε2 allele and ACACB rs2268388 C&gt;T might act as promotion... DisGeNET Detail
Our meta-analysis supports that the ApoE ε2 allele and ACACB rs2268388 C&gt;T might act as promotion... DisGeNET Detail
Our meta-analysis supports that the ApoE ε2 allele and ACACB rs2268388 C&gt;T might act as promotion... DisGeNET Detail
ACACβ gene (rs2268388) and AGTR1 gene (rs5186) polymorphism and the risk of nephropathy in Asian Ind... DisGeNET Detail
ACACβ gene (rs2268388) and AGTR1 gene (rs5186) polymorphism and the risk of nephropathy in Asian Ind... DisGeNET Detail
A large-scale genotyping analysis of gene-based single nucleotide polymorphisms (SNPs) in Japanese p... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2268388 dbSNP
Genome
hg38
Position
chr12:109,205,840-109,205,840
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs2268388
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2163
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3626
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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