chr1:219644224:A>G Detail (hg19)

Information

Genome

Assembly Position
hg19 chr1:219,644,224-219,644,224
hg38 chr1:219,470,882-219,470,882 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:0.831
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
0.005 obesity [The variants near TFAP2B appear to influence central adiposity through an effec... GAD 19557161 Detail
<0.001 Obesity, Abdominal Two meta-analyses of genome-wide association studies (GWAS) have suggested that ... BeFree 21674055 Detail
Annotation

Annotations

DescrptionSourceLinks
[The variants near TFAP2B appear to influence central adiposity through an effect on overall obesity... DisGeNET Detail
Two meta-analyses of genome-wide association studies (GWAS) have suggested that four variants: rs260... DisGeNET Detail
Gene
-
dbSNP
rs2605100 dbSNP
Genome
hg19
Position
chr1:219,644,224-219,644,224
Variant Type
snv
Reference Allele
A
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))
rs2605100
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.8312
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
13931
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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