chr2:118078449:C>G Detail (hg38)

Information

Genome

Assembly Position
hg19 chr2:118,836,025-118,836,025 View the variant detail on this assembly version.
hg38 chr2:118,078,449-118,078,449

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.680
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
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.440 obesity Seven variants displaying conflicting results in previous reports and supposedly... BeFree 21233811 Detail
0.439 obesity Seven variants displaying conflicting results in previous reports and supposedly... BeFree 21233811 Detail
0.147 obesity Seven variants displaying conflicting results in previous reports and supposedly... BeFree 21233811 Detail
0.034 obesity Seven variants displaying conflicting results in previous reports and supposedly... BeFree 21233811 Detail
0.069 obesity Our aim was to identify whether the obesity-susceptible gene variants (rs9939609... BeFree 24458218 Detail
0.400 obesity Our aim was to identify whether the obesity-susceptible gene variants (rs9939609... BeFree 24458218 Detail
0.791 obesity Our aim was to identify whether the obesity-susceptible gene variants (rs9939609... BeFree 24458218 Detail
<0.001 Non-alcoholic Fatty Liver Disease Our aim was to identify whether the obesity-susceptible gene variants (rs9939609... BeFree 24458218 Detail
0.400 obesity Recent genome-wide association (GWA) studies identified several common variants ... BeFree 21544599 Detail
0.069 obesity Among the single-nucleotide polymorphisms (SNPs) previously reported to be assoc... BeFree 24518831 Detail
0.003 myocardial infarction Because significant influence of a polymorphism, rs7566605, near the INSIG2 gene... BeFree 19197259 Detail
0.011 Overweight No association between INSIG2 Gene rs7566605 polymorphism and being overweight i... BeFree 18223638 Detail
0.400 obesity The single nucleotide polymorphism (SNP) rs9939609 in the fat mass and obesity a... BeFree 18839134 Detail
0.005 Obesity, Morbid [INSIG2 gene rs7566605 polymorphism is associated with severe obesity in Japanes... GAD 18615239 Detail
0.069 obesity (Reports, 14 April 2006, p. 279), homozygous carriers of the C allele of the rs7... BeFree 17218510 Detail
0.069 obesity It has recently been demonstrated that a common single-nucleotide polymorphism (... BeFree 18070740 Detail
0.005 Obesity, Morbid INSIG2 gene rs7566605 polymorphism is associated with severe obesity in Japanese... BeFree 18615239 Detail
0.069 obesity Thus, rs7566605 in the upstream region of the INSIG2 gene was found to be associ... BeFree 18615239 Detail
0.069 obesity (Reports, 14 April 2006, p. 279) reported an association between the INSIG2 gene... BeFree 17218508 Detail
0.005 Weight Loss Adverse Event [less weight loss of CC carriers at rs7566605 after 1 year lifestyle interventio... GAD 18003761 Detail
0.069 obesity Genetic associations of the INSIG2 rs7566605 polymorphism with obesity-related m... BeFree 25062423 Detail
0.069 obesity Because significant influence of a polymorphism, rs7566605, near the INSIG2 gene... BeFree 19197259 Detail
0.069 obesity The INSIG2 rs7566605 genetic variant does not play a major role in obesity in a ... BeFree 19523229 Detail
0.011 Overweight [No association between rs7566605 variant and being overweight in Japanese.] GAD 18070740 Detail
0.069 obesity This supports and extends the original finding that there is an association betw... BeFree 19105843 Detail
0.069 obesity Absence of association between the INSIG2 gene polymorphism (rs7566605) and obes... BeFree 19197262 Detail
<0.001 Dyslipidemias One particularly interesting single nucleotide polymorphism (SNP), rs7566605, lo... BeFree 18570692 Detail
0.069 obesity Herbert et al reported association with obesity of a common DNA variant rs756660... BeFree 18270535 Detail
0.069 obesity The K121Q polymorphism in the ectonucleotide pyrophosphatase/phosphodiesterase (... BeFree 19107338 Detail
Annotation

Annotations

DescrptionSourceLinks
Seven variants displaying conflicting results in previous reports and supposedly implicated in the s... DisGeNET Detail
Seven variants displaying conflicting results in previous reports and supposedly implicated in the s... DisGeNET Detail
Seven variants displaying conflicting results in previous reports and supposedly implicated in the s... DisGeNET Detail
Seven variants displaying conflicting results in previous reports and supposedly implicated in the s... DisGeNET Detail
Our aim was to identify whether the obesity-susceptible gene variants (rs9939609, rs9930506, and rs4... DisGeNET Detail
Our aim was to identify whether the obesity-susceptible gene variants (rs9939609, rs9930506, and rs4... DisGeNET Detail
Our aim was to identify whether the obesity-susceptible gene variants (rs9939609, rs9930506, and rs4... DisGeNET Detail
Our aim was to identify whether the obesity-susceptible gene variants (rs9939609, rs9930506, and rs4... DisGeNET Detail
Recent genome-wide association (GWA) studies identified several common variants for obesity: rs99396... DisGeNET Detail
Among the single-nucleotide polymorphisms (SNPs) previously reported to be associated with body mass... DisGeNET Detail
Because significant influence of a polymorphism, rs7566605, near the INSIG2 gene on BMI has been sho... DisGeNET Detail
No association between INSIG2 Gene rs7566605 polymorphism and being overweight in Japanese populatio... DisGeNET Detail
The single nucleotide polymorphism (SNP) rs9939609 in the fat mass and obesity associated gene (FTO)... DisGeNET Detail
[INSIG2 gene rs7566605 polymorphism is associated with severe obesity in Japanese.] DisGeNET Detail
(Reports, 14 April 2006, p. 279), homozygous carriers of the C allele of the rs7566605 variant near ... DisGeNET Detail
It has recently been demonstrated that a common single-nucleotide polymorphism (rs7566605) upstream ... DisGeNET Detail
INSIG2 gene rs7566605 polymorphism is associated with severe obesity in Japanese. DisGeNET Detail
Thus, rs7566605 in the upstream region of the INSIG2 gene was found to be associated with obesity, i... DisGeNET Detail
(Reports, 14 April 2006, p. 279) reported an association between the INSIG2 gene variant rs7566605 a... DisGeNET Detail
[less weight loss of CC carriers at rs7566605 after 1 year lifestyle intervention of 293 obese child... DisGeNET Detail
Genetic associations of the INSIG2 rs7566605 polymorphism with obesity-related metabolic traits in M... DisGeNET Detail
Because significant influence of a polymorphism, rs7566605, near the INSIG2 gene on BMI has been sho... DisGeNET Detail
The INSIG2 rs7566605 genetic variant does not play a major role in obesity in a sample of 24,722 ind... DisGeNET Detail
[No association between rs7566605 variant and being overweight in Japanese.] DisGeNET Detail
This supports and extends the original finding that there is an association between measures of obes... DisGeNET Detail
Absence of association between the INSIG2 gene polymorphism (rs7566605) and obesity in the European ... DisGeNET Detail
One particularly interesting single nucleotide polymorphism (SNP), rs7566605, located 10 kb upstream... DisGeNET Detail
Herbert et al reported association with obesity of a common DNA variant rs7566605 at 10 kb upstream ... DisGeNET Detail
The K121Q polymorphism in the ectonucleotide pyrophosphatase/phosphodiesterase (ENPP)-1 gene and the... DisGeNET Detail
Gene
-
dbSNP
rs7566605 dbSNP
Genome
hg38
Position
chr2:118,078,449-118,078,449
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))
rs7566605
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6803
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
11401
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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