chr9:123787676:T>G Detail (hg38) (DENND1A)

Information

Genome

Assembly Position
hg19 chr9:126,549,955-126,549,955 View the variant detail on this assembly version.
hg38 chr9:123,787,676-123,787,676

HGVS

Type Transcript Protein
RefSeq NM_024820.2:c.132+4911A>C
NM_020946.1:c.132+4911A>C
Ensemble ENST00000373618.1:c.86+4911A>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.066
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 tgv37570660 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 Ovarian Diseases Two strongly correlated Han Chinese PCOS risk variants on chromosome 9q33.3, rs1... BeFree 22547425 Detail
Annotation

Annotations

DescrptionSourceLinks
Two strongly correlated Han Chinese PCOS risk variants on chromosome 9q33.3, rs10986105[C], and rs10... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs10986105 dbSNP
Genome
hg38
Position
chr9:123,787,676-123,787,676
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))
rs10986105
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0663
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1112
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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