chr2:227105921:C>T Detail (hg19)

Information

Genome

Assembly Position
hg19 chr2:227,105,921-227,105,921
hg38 chr2:226,241,205-226,241,205 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:0.908
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
0.127 coronary artery disease We tested 1) four SNPs previously shown to be associated with IR (rs2972146, rs2... BeFree 23659870 Detail
0.002 obesity [Genetic variation near IRS1 associates with reduced adiposity and an impaired m... GAD 21706003 Detail
Annotation

Annotations

DescrptionSourceLinks
We tested 1) four SNPs previously shown to be associated with IR (rs2972146, rs2943650), T2D (rs2943... DisGeNET Detail
[Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile.] DisGeNET Detail
Gene
-
dbSNP
rs2943650 dbSNP
Genome
hg19
Position
chr2:227,105,921-227,105,921
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))
rs2943650
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.9084
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
15225
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser