chr6:88861267:A>T Detail (hg19) (CNR1)

Information

Genome

Assembly Position
hg19 chr6:88,861,267-88,861,267
hg38 chr6:88,151,548-88,151,548 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001160226.1:c.-63-6211T>A
NM_001160259.1:c.-63-6211T>A
NM_016083.4:c.-63-6211T>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.195
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 tgv26136252 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
Annotation

Annotations

DescrptionSourceLinks
We examined the association of 4 SNPs (rs6928499, rs806379, rs1535255, rs2023239) in the distal regi... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs806379 dbSNP
Genome
hg19
Position
chr6:88,861,267-88,861,267
Variant Type
snv
Reference Allele
A
Alternative Allele
T
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))
rs806379
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1952
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3272
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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