chr20:32797463:G>T Detail (hg38) (DNMT3B)

Information

Genome

Assembly Position
hg19 chr20:31,385,269-31,385,269 View the variant detail on this assembly version.
hg38 chr20:32,797,463-32,797,463

HGVS

Type Transcript Protein
RefSeq NM_175850.2:c.1466+164G>T
NM_006892.3:c.1490+164G>T
NM_175849.1:c.1430+164G>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.901
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 602900 OMIM
HGNC 2979 HGNC
Ensembl ENSG00000088305 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv63518746 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 Hunger Individuals with a low postprandial decrease in hunger were overrepresented amon... BeFree 19793853 Detail
Annotation

Annotations

DescrptionSourceLinks
Individuals with a low postprandial decrease in hunger were overrepresented among TA/AA (dominant), ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs992472 dbSNP
Genome
hg38
Position
chr20:32,797,463-32,797,463
Variant Type
snv
Reference Allele
G
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))
rs992472
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.9006
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
15094
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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