chr6:108659993:T>G Detail (hg38) (FOXO3)

Information

Genome

Assembly Position
hg19 chr6:108,981,196-108,981,196 View the variant detail on this assembly version.
hg38 chr6:108,659,993-108,659,993

HGVS

Type Transcript Protein
RefSeq NM_201559.2:c.622-3462T>G
NM_001455.3:c.622-3462T>G
Ensemble ENST00000343882.10:c.622-3462T>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.098
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 602681 OMIM
HGNC 3821 HGNC
Ensembl ENSG00000118689 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv26559159 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 rheumatoid arthritis We identify a noncoding polymorphism in FOXO3A (rs12212067: T > G) at which t... BeFree 24035192 Detail
<0.001 Crohn Disease We identify a noncoding polymorphism in FOXO3A (rs12212067: T &gt; G) at which t... BeFree 24035192 Detail
<0.001 Malaria, Falciparum The FOXO3A variant rs12212067T&gt;G is associated with increased inflammatory re... BeFree 25421486 Detail
<0.001 malaria We identify a noncoding polymorphism in FOXO3A (rs12212067: T &gt; G) at which t... BeFree 24035192 Detail
0.560 Crohn Disease The NOD2 p.Leu1007fsX1008 mutation (rs2066847) is a stronger predictor of the cl... BeFree 25365249 Detail
<0.001 Crohn Disease The NOD2 p.Leu1007fsX1008 mutation (rs2066847) is a stronger predictor of the cl... BeFree 25365249 Detail
Annotation

Annotations

DescrptionSourceLinks
We identify a noncoding polymorphism in FOXO3A (rs12212067: T &gt; G) at which the minor (G) allele,... DisGeNET Detail
We identify a noncoding polymorphism in FOXO3A (rs12212067: T &gt; G) at which the minor (G) allele,... DisGeNET Detail
The FOXO3A variant rs12212067T&gt;G is associated with increased inflammatory responses to Plasmodiu... DisGeNET Detail
We identify a noncoding polymorphism in FOXO3A (rs12212067: T &gt; G) at which the minor (G) allele,... DisGeNET Detail
The NOD2 p.Leu1007fsX1008 mutation (rs2066847) is a stronger predictor of the clinical course of Cro... DisGeNET Detail
The NOD2 p.Leu1007fsX1008 mutation (rs2066847) is a stronger predictor of the clinical course of Cro... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs12212067 dbSNP
Genome
hg38
Position
chr6:108,659,993-108,659,993
Variant Type
snv
Reference Allele
T
Alternative Allele
G
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))
rs12212067
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0984
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1649
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser