chr6:88861289:G>C Detail (hg19) (CNR1)

Information

Genome

Assembly Position
hg19 chr6:88,861,289-88,861,289
hg38 chr6:88,151,570-88,151,570 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001160226.1:c.-63-6233C>G
NM_001160259.1:c.-63-6233C>G
NM_016083.4:c.-63-6233C>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.031
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 tgv26136254 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 Polysubstance dependence We examined the association of 4 SNPs (rs6928499, rs806379, rs1535255, rs2023239... BeFree 16741937 Detail
0.133 nicotine dependence The purpose of this study was to analyse the association of smoking status and s... BeFree 22046326 Detail
<0.001 nicotine dependence The purpose of this study was to analyse the association of smoking status and s... BeFree 22046326 Detail
0.020 nicotine dependence The purpose of this study was to analyse the association of smoking status and s... BeFree 22046326 Detail
0.003 nicotine dependence The purpose of this study was to analyse the association of smoking status and s... BeFree 22046326 Detail
0.002 nicotine dependence The purpose of this study was to analyse the association of smoking status and s... BeFree 22046326 Detail
0.001 nicotine dependence The purpose of this study was to analyse the association of smoking status and s... BeFree 22046326 Detail
Annotation

Annotations

DescrptionSourceLinks
We examined the association of 4 SNPs (rs6928499, rs806379, rs1535255, rs2023239) in the distal regi... DisGeNET Detail
The purpose of this study was to analyse the association of smoking status and smoking-related pheno... DisGeNET Detail
The purpose of this study was to analyse the association of smoking status and smoking-related pheno... DisGeNET Detail
The purpose of this study was to analyse the association of smoking status and smoking-related pheno... DisGeNET Detail
The purpose of this study was to analyse the association of smoking status and smoking-related pheno... DisGeNET Detail
The purpose of this study was to analyse the association of smoking status and smoking-related pheno... DisGeNET Detail
The purpose of this study was to analyse the association of smoking status and smoking-related pheno... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs6928499 dbSNP
Genome
hg19
Position
chr6:88,861,289-88,861,289
Variant Type
snv
Reference Allele
G
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))
rs6928499
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0309
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
518
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser