chr2:27423903:C>T Detail (hg38)

Information

Genome

Assembly Position
hg19 chr2:27,646,770-27,646,770 View the variant detail on this assembly version.
hg38 chr2:27,423,903-27,423,903

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.117
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
0.006 Diabetes Mellitus, Non-Insulin-Dependent In 509 GAD-negative patients with newly diagnosed type 2 diabetes, we 1) genotyp... BeFree 21411509 Detail
0.012 Kidney Diseases In 509 GAD-negative patients with newly diagnosed type 2 diabetes, we 1) genotyp... BeFree 21411509 Detail
Annotation

Annotations

DescrptionSourceLinks
In 509 GAD-negative patients with newly diagnosed type 2 diabetes, we 1) genotyped six single nucleo... DisGeNET Detail
In 509 GAD-negative patients with newly diagnosed type 2 diabetes, we 1) genotyped six single nucleo... DisGeNET Detail
Gene
-
dbSNP
rs6547626 dbSNP
Genome
hg38
Position
chr2:27,423,903-27,423,903
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs6547626
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1172
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1965
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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