chr4:6268329:G>A Detail (hg38)

Information

Genome

Assembly Position
hg19 chr4:6,270,056-6,270,056 View the variant detail on this assembly version.
hg38 chr4:6,268,329-6,268,329

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.988
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
0.336 Diabetes Mellitus, Non-Insulin-Dependent Seven of the 29 single nucleotide polymorphisms (SNPs) examined were found to be... BeFree 23144361 Detail
0.452 Diabetes Mellitus, Non-Insulin-Dependent Seven of the 29 single nucleotide polymorphisms (SNPs) examined were found to be... BeFree 23144361 Detail
0.614 Diabetes Mellitus, Non-Insulin-Dependent Seven of the 29 single nucleotide polymorphisms (SNPs) examined were found to be... BeFree 23144361 Detail
0.327 Diabetes Mellitus, Non-Insulin-Dependent Seven of the 29 single nucleotide polymorphisms (SNPs) examined were found to be... BeFree 23144361 Detail
Annotation

Annotations

DescrptionSourceLinks
Seven of the 29 single nucleotide polymorphisms (SNPs) examined were found to be associated with T2D... DisGeNET Detail
Seven of the 29 single nucleotide polymorphisms (SNPs) examined were found to be associated with T2D... DisGeNET Detail
Seven of the 29 single nucleotide polymorphisms (SNPs) examined were found to be associated with T2D... DisGeNET Detail
Seven of the 29 single nucleotide polymorphisms (SNPs) examined were found to be associated with T2D... DisGeNET Detail
Gene
-
dbSNP
rs4689388 dbSNP
Genome
hg38
Position
chr4:6,268,329-6,268,329
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))
rs4689388
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.9884
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16565
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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