chr7:87173667:A>T Detail (hg19) (ABCB1)

Information

Genome

Assembly Position
hg19 chr7:87,173,667-87,173,667
hg38 chr7:87,544,351-87,544,351 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000927.4:c.2065-76T>A
Ensemble ENST00000265724.8:c.2065-76T>A
ENST00000543898.5:c.1873-76T>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.339
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance drug response
Review star
Show details
Links
Type Database ID Link
Gene MIM 171050 OMIM
HGNC 40 HGNC
Ensembl ENSG00000085563 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv30007541 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
drug response 2018-04-28 no assertion criteria provided somatic Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Anxiety Disorders The ABCB1 genotypes of rs1922242 (P=0.0028) and rs1202184 (P=0.0021) showed sign... BeFree 20859246 Detail
<0.001 Depressive Symptoms The ABCB1 genotypes of rs1922242 (P=0.0028) and rs1202184 (P=0.0021) showed sign... BeFree 20859246 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001348946.2(ABCB1):c.2065-76T>A AND Tramadol response ClinVar Detail
The ABCB1 genotypes of rs1922242 (P=0.0028) and rs1202184 (P=0.0021) showed significant association ... DisGeNET Detail
The ABCB1 genotypes of rs1922242 (P=0.0028) and rs1202184 (P=0.0021) showed significant association ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1922242 dbSNP
Genome
hg19
Position
chr7:87,173,667-87,173,667
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))
rs1922242
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3389
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5679
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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