chr2:60584819:G>A Detail (hg19)

Information

Genome

Assembly Position
hg19 chr2:60,584,819-60,584,819
hg38 chr2:60,357,684-60,357,684 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:0.686
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
0.016 Diabetes Mellitus, Non-Insulin-Dependent Of the 37 T2D risk alleles, two showed nominally significant positive associatio... BeFree 21445555 Detail
0.290 Diabetes Mellitus, Non-Insulin-Dependent Of the 37 T2D risk alleles, two showed nominally significant positive associatio... BeFree 21445555 Detail
Annotation

Annotations

DescrptionSourceLinks
Of the 37 T2D risk alleles, two showed nominally significant positive associations with pancreatic c... DisGeNET Detail
Of the 37 T2D risk alleles, two showed nominally significant positive associations with pancreatic c... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs243021 dbSNP
Genome
hg19
Position
chr2:60,584,819-60,584,819
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))
rs243021
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6857
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
11492
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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