chr18:57929432:G>A Detail (hg19)

Information

Genome

Assembly Position
hg19 chr18:57,929,432-57,929,432
hg38 chr18:60,262,199-60,262,199 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:0.076
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
0.029 Diabetes Mellitus, Non-Insulin-Dependent We examined rs17782313, rs17700633, rs12970134, rs477181, rs502933, and rs445050... BeFree 19073769 Detail
0.400 obesity Recent genome-wide association (GWA) studies identified several common variants ... BeFree 21544599 Detail
Annotation

Annotations

DescrptionSourceLinks
We examined rs17782313, rs17700633, rs12970134, rs477181, rs502933, and rs4450508 near MC4R for asso... DisGeNET Detail
Recent genome-wide association (GWA) studies identified several common variants for obesity: rs99396... DisGeNET Detail
Gene
-
dbSNP
rs17700633 dbSNP
Genome
hg19
Position
chr18:57,929,432-57,929,432
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))
rs17700633
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.076
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1274
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser