chr4:141493961:T>C Detail (hg19) (UCP1)

Information

Genome

Assembly Position
hg19 chr4:141,493,961-141,493,961
hg38 chr4:140,572,807-140,572,807 View the variant detail on this assembly version.

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.485
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2003-12-01 no assertion criteria provided UCP1 POLYMORPHISM germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.171 Metabolic syndrome X Of these SNPs, five SNPs were significantly associated with MetS (P < 0.05): ... BeFree 25646961 Detail
<0.001 Metabolic syndrome X Of these SNPs, five SNPs were significantly associated with MetS (P &lt; 0.05): ... BeFree 25646961 Detail
0.004 Metabolic syndrome X Of these SNPs, five SNPs were significantly associated with MetS (P &lt; 0.05): ... BeFree 25646961 Detail
<0.001 Metabolic syndrome X Of these SNPs, five SNPs were significantly associated with MetS (P &lt; 0.05): ... BeFree 25646961 Detail
<0.001 Metabolic syndrome X Of these SNPs, five SNPs were significantly associated with MetS (P &lt; 0.05): ... BeFree 25646961 Detail
0.004 Metabolic syndrome X Of these SNPs, five SNPs were significantly associated with MetS (P &lt; 0.05): ... BeFree 25646961 Detail
0.029 Metabolic syndrome X We investigated whether the -3826A/G polymorphism (rs1800592) of the uncoupling ... BeFree 24138564 Detail
0.020 Diabetes Mellitus, Non-Insulin-Dependent This study suggests that the SNP rs1800592 in the UCP1 gene is associated with i... BeFree 25274455 Detail
0.004 Metabolic syndrome X We investigated whether the -3826A/G polymorphism (rs1800592) of the uncoupling ... BeFree 24138564 Detail
<0.001 Retinal Diseases For SNP rs1800592 of the UCP1 gene, the frequency of allele G and genotype GG wa... BeFree 25274455 Detail
0.002 Diabetes A total of 792 patients with T2DM were enrolled and categorized into two groups:... BeFree 25274455 Detail
<0.001 Retinal Diseases A total of 792 patients with T2DM were enrolled and categorized into two groups:... BeFree 25274455 Detail
<0.001 Retinal Diseases A total of 792 patients with T2DM were enrolled and categorized into two groups:... BeFree 25274455 Detail
0.002 diabetes mellitus A total of 792 patients with T2DM were enrolled and categorized into two groups:... BeFree 25274455 Detail
Annotation

Annotations

DescrptionSourceLinks
NC_000004.12:g.140572807T>C AND UCP1 POLYMORPHISM ClinVar Detail
Of these SNPs, five SNPs were significantly associated with MetS (P &lt; 0.05): LRP2 rs2544390, rs18... DisGeNET Detail
Of these SNPs, five SNPs were significantly associated with MetS (P &lt; 0.05): LRP2 rs2544390, rs18... DisGeNET Detail
Of these SNPs, five SNPs were significantly associated with MetS (P &lt; 0.05): LRP2 rs2544390, rs18... DisGeNET Detail
Of these SNPs, five SNPs were significantly associated with MetS (P &lt; 0.05): LRP2 rs2544390, rs18... DisGeNET Detail
Of these SNPs, five SNPs were significantly associated with MetS (P &lt; 0.05): LRP2 rs2544390, rs18... DisGeNET Detail
Of these SNPs, five SNPs were significantly associated with MetS (P &lt; 0.05): LRP2 rs2544390, rs18... DisGeNET Detail
We investigated whether the -3826A/G polymorphism (rs1800592) of the uncoupling protein 1 gene (UCP1... DisGeNET Detail
This study suggests that the SNP rs1800592 in the UCP1 gene is associated with increased risk of PDR... DisGeNET Detail
We investigated whether the -3826A/G polymorphism (rs1800592) of the uncoupling protein 1 gene (UCP1... DisGeNET Detail
For SNP rs1800592 of the UCP1 gene, the frequency of allele G and genotype GG was significantly high... DisGeNET Detail
A total of 792 patients with T2DM were enrolled and categorized into two groups: (1) the DR group co... DisGeNET Detail
A total of 792 patients with T2DM were enrolled and categorized into two groups: (1) the DR group co... DisGeNET Detail
A total of 792 patients with T2DM were enrolled and categorized into two groups: (1) the DR group co... DisGeNET Detail
A total of 792 patients with T2DM were enrolled and categorized into two groups: (1) the DR group co... DisGeNET Detail
Gene
-
dbSNP
rs1800592 dbSNP
Genome
hg19
Position
chr4:141,493,961-141,493,961
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs1800592
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4854
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8135
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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