chr20:43024049:G>T Detail (hg19) (HNF4A)

Information

Genome

Assembly Position
hg19 chr20:43,024,049-43,024,049
hg38 chr20:44,395,409-44,395,409 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001030003.2:c.50-10649G>T
NM_175914.4:c.50-10649G>T
NM_001030004.2:c.50-10649G>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.520
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 600281 OMIM
HGNC 5024 HGNC
Ensembl ENSG00000101076 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv63819295 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
0.608 Diabetes Mellitus, Non-Insulin-Dependent To summarize, our investigation did not confirm the effects of HNF4A variants (r... BeFree 20558840 Detail
Annotation

Annotations

DescrptionSourceLinks
To summarize, our investigation did not confirm the effects of HNF4A variants (rs1884614 and rs24256... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2425637 dbSNP
Genome
hg19
Position
chr20:43,024,049-43,024,049
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))
rs2425637
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5199
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8714
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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