chr4:141489068:C>T Detail (hg19) (UCP1)

Information

Genome

Assembly Position
hg19 chr4:141,489,068-141,489,068
hg38 chr4:140,567,914-140,567,914 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_021833.4:c.190G>A NP_068605.1:p.Ala64Thr
Ensemble ENST00000262999.4:c.190G>A ENST00000262999.4:p.Ala64Thr
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.069
ToMMo:0.072
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.069

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 113730 OMIM
HGNC 12517 HGNC
Ensembl ENSG00000109424 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv18866125 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
0.137 Kidney Failure, Chronic In south Indian (SI) subjects there was significant allelic and genotypic associ... BeFree 18413200 Detail
0.002 Chronic Kidney Insufficiency In south Indian (SI) subjects there was significant allelic and genotypic associ... BeFree 18413200 Detail
0.003 Kidney Failure, Chronic In south Indian (SI) subjects there was significant allelic and genotypic associ... BeFree 18413200 Detail
<0.001 Chronic Kidney Insufficiency In south Indian (SI) subjects there was significant allelic and genotypic associ... BeFree 18413200 Detail
0.006 Kidney Failure, Chronic In south Indian (SI) subjects there was significant allelic and genotypic associ... BeFree 18413200 Detail
0.003 diabetes mellitus However, after adjustment for gender, age, body mass index, and diabetes mellitu... BeFree 12756473 Detail
<0.001 Obesity, Abdominal In conclusion, central obesity in whites as reflected by an increased waist-to-h... BeFree 12756473 Detail
0.002 diabetes mellitus However, after adjustment for gender, age, body mass index, and diabetes mellitu... BeFree 12756473 Detail
<0.001 Obesity, Abdominal In conclusion, central obesity in whites as reflected by an increased waist-to-h... BeFree 12756473 Detail
Annotation

Annotations

DescrptionSourceLinks
In south Indian (SI) subjects there was significant allelic and genotypic association of the wild-ty... DisGeNET Detail
In south Indian (SI) subjects there was significant allelic and genotypic association of the wild-ty... DisGeNET Detail
In south Indian (SI) subjects there was significant allelic and genotypic association of the wild-ty... DisGeNET Detail
In south Indian (SI) subjects there was significant allelic and genotypic association of the wild-ty... DisGeNET Detail
In south Indian (SI) subjects there was significant allelic and genotypic association of the wild-ty... DisGeNET Detail
However, after adjustment for gender, age, body mass index, and diabetes mellitus the waist-to-hip r... DisGeNET Detail
In conclusion, central obesity in whites as reflected by an increased waist-to-hip ratio is associat... DisGeNET Detail
However, after adjustment for gender, age, body mass index, and diabetes mellitus the waist-to-hip r... DisGeNET Detail
In conclusion, central obesity in whites as reflected by an increased waist-to-hip ratio is associat... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg19
Position
chr4:141,489,068-141,489,068
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
89.43
Standard deviation of sample read depth (HGVD)
42.10
Number of reference allele (HGVD)
2254
Number of alternative allele (HGVD)
166
Allele Frequency (HGVD)
0.06859504132231405
Gene Symbol (HGVD)
UCP1
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))
rs45539933
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0725
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1215
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8650
East Asian Allele Counts (ExAC)
598
East Asian Heterozygous Counts (ExAC)
544
East Asian Homozygous Counts (ExAC)
27
East Asian Allele Frequency (ExAC)
0.0691329479768786
Chromosome Counts in All Race (ExAC)
121400
Allele Counts in All Race (ExAC)
10572
Heterozygous Counts in All Race (ExAC)
9492
Homozygous Counts in All Race (ExAC)
540
Allele Frequency in All Race (ExAC)
0.08708401976935749
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