chr7:87220886:A>G Detail (hg19) (ABCB1)

Information

Genome

Assembly Position
hg19 chr7:87,220,886-87,220,886
hg38 chr7:87,591,570-87,591,570 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000927.4:c.117+4196T>C
Ensemble ENST00000265724.8:c.117+4196T>C
ENST00000543898.5:c.117+4196T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.622
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 171050 OMIM
HGNC 40 HGNC
Ensembl ENSG00000085563 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv30009008 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 Pancolitis The MDR1 variant C3435T was associated with disease behavior in CD (OR = 1.45, 9... BeFree 19685447 Detail
<0.001 adenoma The ABCB1 C-rs3789243-T and NFKB1 -94ins/del homozygous variant genotypes were a... BeFree 23977225 Detail
<0.001 adenoma The ABCB1 C-rs3789243-T and NFKB1 -94ins/del homozygous variant genotypes were a... BeFree 23977225 Detail
0.054 ulcerative colitis In patients with extensive UC a significantly different distribution of genotype... BeFree 17828778 Detail
Annotation

Annotations

DescrptionSourceLinks
The MDR1 variant C3435T was associated with disease behavior in CD (OR = 1.45, 95% CI = 1.01-2.08, P... DisGeNET Detail
The ABCB1 C-rs3789243-T and NFKB1 -94ins/del homozygous variant genotypes were associated with low A... DisGeNET Detail
The ABCB1 C-rs3789243-T and NFKB1 -94ins/del homozygous variant genotypes were associated with low A... DisGeNET Detail
In patients with extensive UC a significantly different distribution of genotypes of the MDR1 G/A ch... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3789243 dbSNP
Genome
hg19
Position
chr7:87,220,886-87,220,886
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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))
rs3789243
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6222
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
10426
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
Genome browser