chr6:31605179:A>C Detail (hg38)

Information

Genome

Assembly Position
hg19 chr6:31,572,956-31,572,956 View the variant detail on this assembly version.
hg38 chr6:31,605,179-31,605,179

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.485
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
0.003 obesity Of five studied variants, only two (SEC16B rs10913469, SH2B1 rs4788102) were nom... BeFree 23121087 Detail
0.021 obesity Of five studied variants, only two (SEC16B rs10913469, SH2B1 rs4788102) were nom... BeFree 23121087 Detail
0.153 obesity Of five studied variants, only two (SEC16B rs10913469, SH2B1 rs4788102) were nom... BeFree 23121087 Detail
0.278 obesity Of five studied variants, only two (SEC16B rs10913469, SH2B1 rs4788102) were nom... BeFree 23121087 Detail
Annotation

Annotations

DescrptionSourceLinks
Of five studied variants, only two (SEC16B rs10913469, SH2B1 rs4788102) were nominally associated wi... DisGeNET Detail
Of five studied variants, only two (SEC16B rs10913469, SH2B1 rs4788102) were nominally associated wi... DisGeNET Detail
Of five studied variants, only two (SEC16B rs10913469, SH2B1 rs4788102) were nominally associated wi... DisGeNET Detail
Of five studied variants, only two (SEC16B rs10913469, SH2B1 rs4788102) were nominally associated wi... DisGeNET Detail
Gene
-
dbSNP
rs2844479 dbSNP
Genome
hg38
Position
chr6:31,605,179-31,605,179
Variant Type
snv
Reference Allele
A
Alternative Allele
C
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))
rs2844479
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4854
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8136
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser