chr1:161234427:A>G Detail (hg38) (NR1I3)

Information

Genome

Assembly Position
hg19 chr1:161,204,217-161,204,217 View the variant detail on this assembly version.
hg38 chr1:161,234,427-161,234,427

HGVS

Type Transcript Protein
RefSeq NM_001077469.2:c.239-1089T>C
NM_001077478.2:c.239-1089T>C
NM_001077480.2:c.239-1089T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.597
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 603881 OMIM
HGNC 7969 HGNC
Ensembl ENSG00000143257 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv3520513 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 HIV Infections In this study, we investigated the effects of CYP2B6 516G&gt;T (rs3745274), CYP2... BeFree 24831655 Detail
Annotation

Annotations

DescrptionSourceLinks
In this study, we investigated the effects of CYP2B6 516G&gt;T (rs3745274), CYP2B6 c.485-18C&gt;T (r... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3003596 dbSNP
Genome
hg38
Position
chr1:161,234,427-161,234,427
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))
rs3003596
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5972
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
10009
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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