chr7:44196069:G>A Detail (hg38)

Information

Genome

Assembly Position
hg19 chr7:44,235,668-44,235,668 View the variant detail on this assembly version.
hg38 chr7:44,196,069-44,196,069

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.216
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 Most notably, 5 SNPs from 5 genes [body mass index (BMI), hip circumference: rs3... BeFree 25060389 Detail
0.008 obesity Most notably, 5 SNPs from 5 genes [body mass index (BMI), hip circumference: rs3... BeFree 25060389 Detail
Annotation

Annotations

DescrptionSourceLinks
Most notably, 5 SNPs from 5 genes [body mass index (BMI), hip circumference: rs3751812/FTO; fasting ... DisGeNET Detail
Most notably, 5 SNPs from 5 genes [body mass index (BMI), hip circumference: rs3751812/FTO; fasting ... DisGeNET Detail
Gene
-
dbSNP
rs4607517 dbSNP
Genome
hg38
Position
chr7:44,196,069-44,196,069
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))
rs4607517
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2163
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3625
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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