chr6:88860482:T>C Detail (hg19) (CNR1)

Information

Genome

Assembly Position
hg19 chr6:88,860,482-88,860,482
hg38 chr6:88,150,763-88,150,763 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001160226.1:c.-63-5426A>G
NM_001160259.1:c.-63-5426A>G
NM_016083.4:c.-63-5426A>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 tgv26136244 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
0.003 Substance abuse problem Two single nucleotide polymorphisms (SNPs) in the CNR1 (rs2023239) and FAAH (rs3... BeFree 18705688 Detail
0.003 Substance abuse problem Two single nucleotide polymorphisms (SNPs) in the CNR1 (rs2023239) and FAAH (rs3... BeFree 18705688 Detail
0.004 cannabis dependence A single nucleotide polymorphism in the cannabis receptor-1 gene (CNR1), rs20232... BeFree 22669173 Detail
Annotation

Annotations

DescrptionSourceLinks
We examined the association of 4 SNPs (rs6928499, rs806379, rs1535255, rs2023239) in the distal regi... DisGeNET Detail
Two single nucleotide polymorphisms (SNPs) in the CNR1 (rs2023239) and FAAH (rs324420) genes, associ... DisGeNET Detail
Two single nucleotide polymorphisms (SNPs) in the CNR1 (rs2023239) and FAAH (rs324420) genes, associ... DisGeNET Detail
A single nucleotide polymorphism in the cannabis receptor-1 gene (CNR1), rs2023239, has been associa... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2023239 dbSNP
Genome
hg19
Position
chr6:88,860,482-88,860,482
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))
rs2023239
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.031
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
519
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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