chr3:170717521:T>A Detail (hg19) (SLC2A2)

Information

Genome

Assembly Position
hg19 chr3:170,717,521-170,717,521
hg38 chr3:170,999,732-170,999,732 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000340.1:c.1069-566A>T
NM_001278658.1:c.1069-566A>T
NM_001278659.1:c.1069-566A>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.021
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
Type Database ID Link
Gene MIM 138160 OMIM
HGNC 11006 HGNC
Ensembl ENSG00000163581 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv15090215 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 diabetes mellitus In the Danish MONICA study four gene variants were significantly associated with... BeFree 23185617 Detail
0.009 diabetes mellitus In the Danish MONICA study four gene variants were significantly associated with... BeFree 23185617 Detail
<0.001 diabetes mellitus In the Danish MONICA study four gene variants were significantly associated with... BeFree 23185617 Detail
<0.001 Diabetes In the Danish MONICA study four gene variants were significantly associated with... BeFree 23185617 Detail
0.002 Diabetes In the Danish MONICA study four gene variants were significantly associated with... BeFree 23185617 Detail
<0.001 Diabetes In the Danish MONICA study four gene variants were significantly associated with... BeFree 23185617 Detail
Annotation

Annotations

DescrptionSourceLinks
In the Danish MONICA study four gene variants were significantly associated with incident CVD indepe... DisGeNET Detail
In the Danish MONICA study four gene variants were significantly associated with incident CVD indepe... DisGeNET Detail
In the Danish MONICA study four gene variants were significantly associated with incident CVD indepe... DisGeNET Detail
In the Danish MONICA study four gene variants were significantly associated with incident CVD indepe... DisGeNET Detail
In the Danish MONICA study four gene variants were significantly associated with incident CVD indepe... DisGeNET Detail
In the Danish MONICA study four gene variants were significantly associated with incident CVD indepe... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs11920090 dbSNP
Genome
hg19
Position
chr3:170,717,521-170,717,521
Variant Type
snv
Reference Allele
T
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))
rs11920090
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.021
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
352
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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