chr17:43892520:A>C Detail (hg19) (CRHR1, LINC02210-CRHR1)

Information

Genome

Assembly Position
hg19 chr17:43,892,520-43,892,520
hg38 chr17:45,815,154-45,815,154 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004382.4:c.122-1309A>C
NM_001145146.1:c.122-1309A>C
NM_001145147.1:c.122-6201A>C
Type Transcript Protein
RefSeq NM_001256299.2:c.-404-1309A>C
Ensemble ENST00000634540.1:c.-404-1309A>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.871
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 122561 OMIM
HGNC 2357 HGNC
Ensembl ENSG00000120088 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv57930988 TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM
HGNC 51483 HGNC
Ensembl ENSG00000263715 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv57930988 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
0.127 major depressive disorder To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.082 depressive disorder To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.026 Mental Depression To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.002 Unipolar Depression To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.013 Mental Depression To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.006 depressive disorder To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.088 depressive disorder To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.018 Mental Depression To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.087 depressive disorder To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.002 depressive disorder To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.003 major depressive disorder To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.004 Unipolar Depression To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.020 Mental Depression To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.009 depressive disorder To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.033 Mental Depression To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.006 depressive disorder To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.038 Mental Depression To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.009 Mental Depression To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.043 Mental Depression To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.007 depressive disorder To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.087 depressive disorder The BclI and ER22/23EK single nucleotide polymorphisms (SNPs) of the GR and the ... BeFree 23726670 Detail
Annotation

Annotations

DescrptionSourceLinks
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
The BclI and ER22/23EK single nucleotide polymorphisms (SNPs) of the GR and the haplotype-tagged rs1... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs242941 dbSNP
Genome
hg19
Position
chr17:43,892,520-43,892,520
Variant Type
snv
Reference Allele
A
Alternative Allele
C
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))
rs242941
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.8711
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
14600
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser