chr19:7166109:A>G Detail (hg19) (INSR)

Information

Genome

Assembly Position
hg19 chr19:7,166,109-7,166,109
hg38 chr19:7,166,098-7,166,098 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000208.3:c.1861+56T>C
NM_001079817.2:c.1861+56T>C
Ensemble ENST00000302850.10:c.1861+56T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.267
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 147670 OMIM
HGNC 6091 HGNC
Ensembl ENSG00000171105 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv61023084 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-11-12 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.160 polycystic ovary syndrome Genome-wide association study identifies eight new risk loci for polycystic ovar... GWASCAT 22885925 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
NM_000208.4(INSR):c.1861+56T>C AND not provided ClinVar Detail
Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome. 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
rs2059807 dbSNP
Genome
hg19
Position
chr19:7,166,109-7,166,109
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))
rs2059807
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2666
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4469
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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