chr18:60217517:G>A Detail (hg38)

Information

Genome

Assembly Position
hg19 chr18:57,884,750-57,884,750 View the variant detail on this assembly version.
hg38 chr18:60,217,517-60,217,517

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.155
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
0.069 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
0.009 Overweight Only the rs12970134 in the MC4R gene was significantly associated with overweigh... BeFree 25115458 Detail
<0.001 Non-alcoholic Fatty Liver Disease The FTO rs9939609 A-allele increased risk of NAFLD and MC4R rs12970134 was assoc... BeFree 24458218 Detail
0.029 Diabetes Mellitus, Non-Insulin-Dependent We examined rs17782313, rs17700633, rs12970134, rs477181, rs502933, and rs445050... BeFree 19073769 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 The FTO rs9939609 A-allele increased risk of NAFLD and MC4R rs12970134 was assoc... BeFree 24458218 Detail
0.004 obesity Here, we evaluated the association of two variants (rs12970134 and rs4450508) ne... BeFree 19680233 Detail
0.791 obesity Furthermore, logistic regression showed that MC4R rs12970134 and TFAP2B rs987237... BeFree 24670271 Detail
<0.001 Non-alcoholic Fatty Liver Disease Our aim was to identify whether the obesity-susceptible gene variants (rs9939609... BeFree 24458218 Detail
0.029 Diabetes Mellitus, Non-Insulin-Dependent Here, we evaluated the association of two variants (rs12970134 and rs4450508) ne... BeFree 19680233 Detail
0.791 obesity Only the rs12970134 in the MC4R gene was significantly associated with overweigh... BeFree 25115458 Detail
0.003 Diabetes Mellitus, Non-Insulin-Dependent Here, we evaluated the association of two variants (rs12970134 and rs4450508) ne... BeFree 19680233 Detail
0.124 hyperinsulinism In sum, our data support the associations of variants rs17782313 and rs12970134 ... BeFree 21372613 Detail
0.008 obesity In the present study, we examined the association between variants in fat mass- ... BeFree 25501231 Detail
0.791 obesity In the present study, we examined the association between variants in fat mass- ... BeFree 25501231 Detail
Annotation

Annotations

DescrptionSourceLinks
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
Only the rs12970134 in the MC4R gene was significantly associated with overweight/obesity risk, with... DisGeNET Detail
The FTO rs9939609 A-allele increased risk of NAFLD and MC4R rs12970134 was associated with ALT level... DisGeNET Detail
We examined rs17782313, rs17700633, rs12970134, rs477181, rs502933, and rs4450508 near MC4R for asso... DisGeNET Detail
Our aim was to identify whether the obesity-susceptible gene variants (rs9939609, rs9930506, and rs4... DisGeNET Detail
The FTO rs9939609 A-allele increased risk of NAFLD and MC4R rs12970134 was associated with ALT level... DisGeNET Detail
Here, we evaluated the association of two variants (rs12970134 and rs4450508) near MC4R and a nonsyn... DisGeNET Detail
Furthermore, logistic regression showed that MC4R rs12970134 and TFAP2B rs987237 were nominally, res... DisGeNET Detail
Our aim was to identify whether the obesity-susceptible gene variants (rs9939609, rs9930506, and rs4... DisGeNET Detail
Here, we evaluated the association of two variants (rs12970134 and rs4450508) near MC4R and a nonsyn... DisGeNET Detail
Only the rs12970134 in the MC4R gene was significantly associated with overweight/obesity risk, with... DisGeNET Detail
Here, we evaluated the association of two variants (rs12970134 and rs4450508) near MC4R and a nonsyn... DisGeNET Detail
In sum, our data support the associations of variants rs17782313 and rs12970134 near MC4R with early... DisGeNET Detail
In the present study, we examined the association between variants in fat mass- and obesity-associat... DisGeNET Detail
In the present study, we examined the association between variants in fat mass- and obesity-associat... DisGeNET Detail
Gene
-
dbSNP
rs12970134 dbSNP
Genome
hg38
Position
chr18:60,217,517-60,217,517
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))
rs12970134
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.155
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2597
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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