chr3:52855229:T>C Detail (hg19) (ITIH4)

Information

Genome

Assembly Position
hg19 chr3:52,855,229-52,855,229
hg38 chr3:52,821,213-52,821,213 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_002218.4:c.1540-83A>G
NM_001166449.1:c.1540-83A>G
Ensemble ENST00000266041.9:c.1540-83A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.391
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 600564 OMIM
HGNC 6169 HGNC
Ensembl ENSG00000055955 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv12529332 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
0.125 schizophrenia [Genome-wide association study identifies five new schizophrenia loci.] GAD 21926974 Detail
0.125 schizophrenia Genome-wide association study identifies five new schizophrenia loci. GWASCAT 21926974 Detail
<0.001 Psychotic Disorders A history of suicide attempt was assessed in a sample of 1009 patients with BD, ... BeFree 24461634 Detail
0.003 bipolar disorder In a joint analysis with a bipolar disorder sample (16,374 affected individuals ... BeFree 21926974 Detail
0.001 Psychotic Disorders A history of suicide attempt was assessed in a sample of 1009 patients with BD, ... BeFree 24461634 Detail
0.270 bipolar disorder In a joint analysis with a bipolar disorder sample (16,374 affected individuals ... BeFree 21926974 Detail
<0.001 Nonorganic psychosis A history of suicide attempt was assessed in a sample of 1009 patients with BD, ... BeFree 24461634 Detail
<0.001 Nonorganic psychosis A history of suicide attempt was assessed in a sample of 1009 patients with BD, ... BeFree 24461634 Detail
0.002 Psychotic Disorders A history of suicide attempt was assessed in a sample of 1009 patients with BD, ... BeFree 24461634 Detail
0.129 schizophrenia A history of suicide attempt was assessed in a sample of 1009 patients with BD, ... BeFree 24461634 Detail
0.266 bipolar disorder In a joint analysis with a bipolar disorder sample (16,374 affected individuals ... BeFree 21926974 Detail
0.270 bipolar disorder A history of suicide attempt was assessed in a sample of 1009 patients with BD, ... BeFree 24461634 Detail
<0.001 bipolar disorder In a joint analysis with a bipolar disorder sample (16,374 affected individuals ... BeFree 21926974 Detail
0.001 Nonorganic psychosis A history of suicide attempt was assessed in a sample of 1009 patients with BD, ... BeFree 24461634 Detail
0.135 schizophrenia A history of suicide attempt was assessed in a sample of 1009 patients with BD, ... BeFree 24461634 Detail
0.266 bipolar disorder A history of suicide attempt was assessed in a sample of 1009 patients with BD, ... BeFree 24461634 Detail
0.121 schizophrenia A history of suicide attempt was assessed in a sample of 1009 patients with BD, ... BeFree 24461634 Detail
Annotation

Annotations

DescrptionSourceLinks
[Genome-wide association study identifies five new schizophrenia loci.] DisGeNET Detail
Genome-wide association study identifies five new schizophrenia loci. DisGeNET Detail
A history of suicide attempt was assessed in a sample of 1009 patients with BD, SCZ and related psyc... DisGeNET Detail
In a joint analysis with a bipolar disorder sample (16,374 affected individuals and 14,044 controls)... DisGeNET Detail
A history of suicide attempt was assessed in a sample of 1009 patients with BD, SCZ and related psyc... DisGeNET Detail
In a joint analysis with a bipolar disorder sample (16,374 affected individuals and 14,044 controls)... DisGeNET Detail
A history of suicide attempt was assessed in a sample of 1009 patients with BD, SCZ and related psyc... DisGeNET Detail
A history of suicide attempt was assessed in a sample of 1009 patients with BD, SCZ and related psyc... DisGeNET Detail
A history of suicide attempt was assessed in a sample of 1009 patients with BD, SCZ and related psyc... DisGeNET Detail
A history of suicide attempt was assessed in a sample of 1009 patients with BD, SCZ and related psyc... DisGeNET Detail
In a joint analysis with a bipolar disorder sample (16,374 affected individuals and 14,044 controls)... DisGeNET Detail
A history of suicide attempt was assessed in a sample of 1009 patients with BD, SCZ and related psyc... DisGeNET Detail
In a joint analysis with a bipolar disorder sample (16,374 affected individuals and 14,044 controls)... DisGeNET Detail
A history of suicide attempt was assessed in a sample of 1009 patients with BD, SCZ and related psyc... DisGeNET Detail
A history of suicide attempt was assessed in a sample of 1009 patients with BD, SCZ and related psyc... DisGeNET Detail
A history of suicide attempt was assessed in a sample of 1009 patients with BD, SCZ and related psyc... DisGeNET Detail
A history of suicide attempt was assessed in a sample of 1009 patients with BD, SCZ and related psyc... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2239547 dbSNP
Genome
hg19
Position
chr3:52,855,229-52,855,229
Variant Type
snv
Reference Allele
T
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))
rs2239547
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3905
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6544
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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