chr6:88853635:C>T Detail (hg19) (CNR1)

Information

Genome

Assembly Position
hg19 chr6:88,853,635-88,853,635
hg38 chr6:88,143,916-88,143,916 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001160226.1:c.1359G>A NP_001153698.1:p.Thr453=
NM_001160259.1:c.1359G>A NP_001153731.1:p.Thr453=
NM_016083.4:c.1359G>A NP_057167.2:p.Thr453=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.064
ToMMo:0.063
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.068

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 114610 OMIM
HGNC 2159 HGNC
Ensembl ENSG00000118432 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv26135920 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 Autoimmune Diseases Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7... BeFree 22194214 Detail
0.010 multiple sclerosis Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7... BeFree 22194214 Detail
<0.001 multiple sclerosis Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7... BeFree 22194214 Detail
0.001 multiple sclerosis Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7... BeFree 22194214 Detail
<0.001 multiple sclerosis Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7... BeFree 22194214 Detail
0.002 Autoimmune Diseases Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7... BeFree 22194214 Detail
<0.001 multiple sclerosis Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7... BeFree 22194214 Detail
<0.001 multiple sclerosis Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7... BeFree 22194214 Detail
<0.001 Autoimmune Diseases Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7... BeFree 22194214 Detail
0.007 Marijuana Abuse Here, we made a preliminary screening among ten Single Nucleotide Polymorphisms ... BeFree 24407958 Detail
<0.001 depressive disorder Consistent with preclinical findings, a synonymous CNR1 polymorphism, rs1049353,... BeFree 22393204 Detail
0.014 Marijuana Abuse Here, we made a preliminary screening among ten Single Nucleotide Polymorphisms ... BeFree 24407958 Detail
<0.001 Anhedonia Consistent with preclinical findings, a synonymous CNR1 polymorphism, rs1049353,... BeFree 22393204 Detail
<0.001 Marijuana Abuse Here, we made a preliminary screening among ten Single Nucleotide Polymorphisms ... BeFree 24407958 Detail
0.002 Marijuana Abuse Here, we made a preliminary screening among ten Single Nucleotide Polymorphisms ... BeFree 24407958 Detail
0.006 Marijuana Abuse Here, we made a preliminary screening among ten Single Nucleotide Polymorphisms ... BeFree 24407958 Detail
0.004 schizophrenia In the present study, we investigated three polymorphisms (rs1049353, rs806368, ... BeFree 21695734 Detail
0.003 Marijuana Abuse Here, we made a preliminary screening among ten Single Nucleotide Polymorphisms ... BeFree 24407958 Detail
<0.001 Drug abuse Consistent with preclinical findings, a synonymous CNR1 polymorphism, rs1049353,... BeFree 22393204 Detail
<0.001 Mental Depression Consistent with preclinical findings, a synonymous CNR1 polymorphism, rs1049353,... BeFree 22393204 Detail
0.003 ulcerative colitis The CNR1 p.Thr453Thr polymorphism appears to modulate UC susceptibility and the ... BeFree 20195480 Detail
Annotation

Annotations

DescrptionSourceLinks
Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7538427), EPHA4 (rs15... DisGeNET Detail
Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7538427), EPHA4 (rs15... DisGeNET Detail
Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7538427), EPHA4 (rs15... DisGeNET Detail
Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7538427), EPHA4 (rs15... DisGeNET Detail
Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7538427), EPHA4 (rs15... DisGeNET Detail
Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7538427), EPHA4 (rs15... DisGeNET Detail
Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7538427), EPHA4 (rs15... DisGeNET Detail
Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7538427), EPHA4 (rs15... DisGeNET Detail
Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7538427), EPHA4 (rs15... DisGeNET Detail
Here, we made a preliminary screening among ten Single Nucleotide Polymorphisms (SNP) of the CNR1 (r... DisGeNET Detail
Consistent with preclinical findings, a synonymous CNR1 polymorphism, rs1049353, is linked to the ef... DisGeNET Detail
Here, we made a preliminary screening among ten Single Nucleotide Polymorphisms (SNP) of the CNR1 (r... DisGeNET Detail
Consistent with preclinical findings, a synonymous CNR1 polymorphism, rs1049353, is linked to the ef... DisGeNET Detail
Here, we made a preliminary screening among ten Single Nucleotide Polymorphisms (SNP) of the CNR1 (r... DisGeNET Detail
Here, we made a preliminary screening among ten Single Nucleotide Polymorphisms (SNP) of the CNR1 (r... DisGeNET Detail
Here, we made a preliminary screening among ten Single Nucleotide Polymorphisms (SNP) of the CNR1 (r... DisGeNET Detail
In the present study, we investigated three polymorphisms (rs1049353, rs806368, and rs4707436) in th... DisGeNET Detail
Here, we made a preliminary screening among ten Single Nucleotide Polymorphisms (SNP) of the CNR1 (r... DisGeNET Detail
Consistent with preclinical findings, a synonymous CNR1 polymorphism, rs1049353, is linked to the ef... DisGeNET Detail
Consistent with preclinical findings, a synonymous CNR1 polymorphism, rs1049353, is linked to the ef... DisGeNET Detail
The CNR1 p.Thr453Thr polymorphism appears to modulate UC susceptibility and the CD phenotype. DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg19
Position
chr6:88,853,635-88,853,635
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
209.04
Standard deviation of sample read depth (HGVD)
88.71
Number of reference allele (HGVD)
2265
Number of alternative allele (HGVD)
155
Allele Frequency (HGVD)
0.0640495867768595
Gene Symbol (HGVD)
CNR1
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))
rs1049353
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0632
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1059
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
588
East Asian Heterozygous Counts (ExAC)
542
East Asian Homozygous Counts (ExAC)
23
East Asian Allele Frequency (ExAC)
0.06794545874740004
Chromosome Counts in All Race (ExAC)
121396
Allele Counts in All Race (ExAC)
25926
Heterozygous Counts in All Race (ExAC)
19440
Homozygous Counts in All Race (ExAC)
3243
Allele Frequency in All Race (ExAC)
0.21356552110448448
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