chr17:45793781:G>A Detail (hg38) (CRHR1, LINC02210-CRHR1)

Information

Genome

Assembly Position
hg19 chr17:43,871,147-43,871,147 View the variant detail on this assembly version.
hg38 chr17:45,793,781-45,793,781

HGVS

Type Transcript Protein
RefSeq NM_004382.4:c.33+9204G>A
NM_001145147.1:c.33+9204G>A
NM_001145146.1:c.33+9204G>A
Type Transcript Protein
RefSeq NM_001256299.2:c.-492-13229G>A
Ensemble ENST00000634540.1:c.-492-13229G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.149
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 tgv57930490 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 tgv57930490 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 child abuse behavior FKBP5 (rs1360780) and CRHR1 (rs12944712) polymorphisms significantly interacted ... BeFree 24099078 Detail
0.001 child abuse behavior FKBP5 (rs1360780) and CRHR1 (rs12944712) polymorphisms significantly interacted ... BeFree 24099078 Detail
Annotation

Annotations

DescrptionSourceLinks
FKBP5 (rs1360780) and CRHR1 (rs12944712) polymorphisms significantly interacted with child abuse and... DisGeNET Detail
FKBP5 (rs1360780) and CRHR1 (rs12944712) polymorphisms significantly interacted with child abuse and... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs12944712 dbSNP
Genome
hg38
Position
chr17:45,793,781-45,793,781
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))
rs12944712
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1494
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2503
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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