chr9:123762933:A>G Detail (hg38) (DENND1A)

Information

Genome

Assembly Position
hg19 chr9:126,525,212-126,525,212 View the variant detail on this assembly version.
hg38 chr9:123,762,933-123,762,933

HGVS

Type Transcript Protein
RefSeq NM_024820.2:c.183-5111T>C
NM_020946.1:c.183-5111T>C
Ensemble ENST00000373618.1:c.87-5111T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.229
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 613633 OMIM
HGNC 29324 HGNC
Ensembl ENSG00000119522 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv37570279 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
0.130 polycystic ovary syndrome The aim of this study was to explore the polycystic ovary syndrome (PCOS) relate... BeFree 22902918 Detail
0.125 polycystic ovary syndrome The aim of this study was to explore the polycystic ovary syndrome (PCOS) relate... BeFree 22902918 Detail
0.123 polycystic ovary syndrome The aim of this study was to explore the polycystic ovary syndrome (PCOS) relate... BeFree 22902918 Detail
<0.001 endometrial carcinoma The aim of this study was to explore the polycystic ovary syndrome (PCOS) relate... BeFree 22902918 Detail
<0.001 endometrial carcinoma The aim of this study was to explore the polycystic ovary syndrome (PCOS) relate... BeFree 22902918 Detail
<0.001 endometrial carcinoma The aim of this study was to explore the polycystic ovary syndrome (PCOS) relate... BeFree 22902918 Detail
0.125 polycystic ovary syndrome Genome-wide association study identifies eight new risk loci for polycystic ovar... GWASCAT 22885925 Detail
0.020 Ovarian Diseases Using a dominant model, the GG + AG group for rs2479106 in DENND1A was associate... BeFree 23208300 Detail
<0.001 Ovarian Diseases In a previous genome-wide association study, the SNP variants rs13429458, rs1247... BeFree 23208300 Detail
0.125 polycystic ovary syndrome Genome-wide association study identifies susceptibility loci for polycystic ovar... GWASCAT 21151128 Detail
0.125 polycystic ovary syndrome [Genome-wide association study identifies susceptibility loci for polycystic ova... GAD 21151128 Detail
Annotation

Annotations

DescrptionSourceLinks
The aim of this study was to explore the polycystic ovary syndrome (PCOS) related single nucleotide ... DisGeNET Detail
The aim of this study was to explore the polycystic ovary syndrome (PCOS) related single nucleotide ... DisGeNET Detail
The aim of this study was to explore the polycystic ovary syndrome (PCOS) related single nucleotide ... DisGeNET Detail
The aim of this study was to explore the polycystic ovary syndrome (PCOS) related single nucleotide ... DisGeNET Detail
The aim of this study was to explore the polycystic ovary syndrome (PCOS) related single nucleotide ... DisGeNET Detail
The aim of this study was to explore the polycystic ovary syndrome (PCOS) related single nucleotide ... DisGeNET Detail
Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome. DisGeNET Detail
Using a dominant model, the GG + AG group for rs2479106 in DENND1A was associated with elevated seru... DisGeNET Detail
In a previous genome-wide association study, the SNP variants rs13429458, rs12478601, rs2479106, rs1... DisGeNET Detail
Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromo... DisGeNET Detail
[Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chrom... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2479106 dbSNP
Genome
hg38
Position
chr9:123,762,933-123,762,933
Variant Type
snv
Reference Allele
A
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))
rs2479106
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2286
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3832
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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