chr6:88850100:T>C Detail (hg19) (CNR1)

Information

Genome

Assembly Position
hg19 chr6:88,850,100-88,850,100
hg38 chr6:88,140,381-88,140,381 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001160226.1:c.*3475A>G
NM_001160259.1:c.*3475A>G
NM_016083.4:c.*3475A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.526
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 114610 OMIM
HGNC 2159 HGNC
Ensembl ENSG00000118432 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv26135823 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
0.007 Marijuana Abuse Here, we made a preliminary screening among ten Single Nucleotide Polymorphisms ... BeFree 24407958 Detail
0.014 Marijuana Abuse Here, we made a preliminary screening among ten Single Nucleotide Polymorphisms ... BeFree 24407958 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
Annotation

Annotations

DescrptionSourceLinks
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
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

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
-
dbSNP
rs806368 dbSNP
Genome
hg19
Position
chr6:88,850,100-88,850,100
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))
rs806368
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5265
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8824
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser