chr9:94886305:G>A Detail (hg38) (AOPEP)

Information

Genome

Assembly Position
hg19 chr9:97,648,587-97,648,587 View the variant detail on this assembly version.
hg38 chr9:94,886,305-94,886,305

HGVS

Type Transcript Protein
RefSeq NM_001193331.2:c.1365-37681G>A
NM_032823.5:c.1365-68872G>A
NM_001193329.1:c.1365-37681G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.223
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 619600 OMIM
HGNC 1361 HGNC
Ensembl ENSG00000148120 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv36891526 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
0.120 polycystic ovary syndrome Each single PCOS clinical feature had a specific genetic association, and rs4385... BeFree 25586784 Detail
0.003 hyperandrogenism After adjustment for age and BMI, variants in luteinizing hormone/choriogonadotr... BeFree 25586784 Detail
<0.001 anovulation After adjustment for age and BMI, variants in luteinizing hormone/choriogonadotr... BeFree 25586784 Detail
<0.001 hyperandrogenism After adjustment for age and BMI, variants in luteinizing hormone/choriogonadotr... BeFree 25586784 Detail
<0.001 hyperandrogenism After adjustment for age and BMI, variants in luteinizing hormone/choriogonadotr... BeFree 25586784 Detail
<0.001 anovulation After adjustment for age and BMI, variants in luteinizing hormone/choriogonadotr... BeFree 25586784 Detail
0.007 hyperandrogenism After adjustment for age and BMI, variants in luteinizing hormone/choriogonadotr... BeFree 25586784 Detail
<0.001 hyperandrogenism After adjustment for age and BMI, variants in luteinizing hormone/choriogonadotr... BeFree 25586784 Detail
<0.001 anovulation After adjustment for age and BMI, variants in luteinizing hormone/choriogonadotr... BeFree 25586784 Detail
<0.001 anovulation After adjustment for age and BMI, variants in luteinizing hormone/choriogonadotr... BeFree 25586784 Detail
<0.001 anovulation After adjustment for age and BMI, variants in luteinizing hormone/choriogonadotr... BeFree 25586784 Detail
Annotation

Annotations

DescrptionSourceLinks
Each single PCOS clinical feature had a specific genetic association, and rs4385527 in the chromosom... DisGeNET Detail
After adjustment for age and BMI, variants in luteinizing hormone/choriogonadotropin receptor (LHCGR... DisGeNET Detail
After adjustment for age and BMI, variants in luteinizing hormone/choriogonadotropin receptor (LHCGR... DisGeNET Detail
After adjustment for age and BMI, variants in luteinizing hormone/choriogonadotropin receptor (LHCGR... DisGeNET Detail
After adjustment for age and BMI, variants in luteinizing hormone/choriogonadotropin receptor (LHCGR... DisGeNET Detail
After adjustment for age and BMI, variants in luteinizing hormone/choriogonadotropin receptor (LHCGR... DisGeNET Detail
After adjustment for age and BMI, variants in luteinizing hormone/choriogonadotropin receptor (LHCGR... DisGeNET Detail
After adjustment for age and BMI, variants in luteinizing hormone/choriogonadotropin receptor (LHCGR... DisGeNET Detail
After adjustment for age and BMI, variants in luteinizing hormone/choriogonadotropin receptor (LHCGR... DisGeNET Detail
After adjustment for age and BMI, variants in luteinizing hormone/choriogonadotropin receptor (LHCGR... DisGeNET Detail
After adjustment for age and BMI, variants in luteinizing hormone/choriogonadotropin receptor (LHCGR... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs4385527 dbSNP
Genome
hg38
Position
chr9:94,886,305-94,886,305
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))
rs4385527
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2232
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3740
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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