chr20:43039040:G>A Detail (hg19) (HNF4A)

Information

Genome

Assembly Position
hg19 chr20:43,039,040-43,039,040
hg38 chr20:44,410,400-44,410,400 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000457.4:c.385+2925G>A
NM_001258355.1:c.385+2925G>A
NM_178849.2:c.385+2925G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.005
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 tgv63819848 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
0.374 Diabetes Mellitus, Non-Insulin-Dependent These results indicate that the associations of HNF4A rs1885088 with glucose tol... BeFree 19406499 Detail
0.031 diabetes mellitus Nine SNPs spanning the HNF4 alpha P2 promoter (rs4810424, rs1884613 and rs188461... BeFree 21633728 Detail
0.001 Metabolic syndrome X Nine SNPs spanning the HNF4 alpha P2 promoter (rs4810424, rs1884613 and rs188461... BeFree 21633728 Detail
0.027 Diabetes Nine SNPs spanning the HNF4 alpha P2 promoter (rs4810424, rs1884613 and rs188461... BeFree 21633728 Detail
Annotation

Annotations

DescrptionSourceLinks
These results indicate that the associations of HNF4A rs1885088 with glucose tolerance and rs745975 ... DisGeNET Detail
Nine SNPs spanning the HNF4 alpha P2 promoter (rs4810424, rs1884613 and rs1884614) and coding region... DisGeNET Detail
Nine SNPs spanning the HNF4 alpha P2 promoter (rs4810424, rs1884613 and rs1884614) and coding region... DisGeNET Detail
Nine SNPs spanning the HNF4 alpha P2 promoter (rs4810424, rs1884613 and rs1884614) and coding region... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1885088 dbSNP
Genome
hg19
Position
chr20:43,039,040-43,039,040
Variant Type
snv
Reference Allele
G
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))
rs1885088
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0053
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
89
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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