chr3:119501965:G>A Detail (hg19) (NR1I2)

Information

Genome

Assembly Position
hg19 chr3:119,501,965-119,501,965
hg38 chr3:119,783,118-119,783,118 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_022002.2:c.95+266G>A
NM_033013.2:c.-23+818G>A
NM_003889.3:c.-23+818G>A
Summary

MGeND

Clinical significance not provided
Variant entry
GWAS entry 1
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.385
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 603065 OMIM
HGNC 7968 HGNC
Ensembl ENSG00000144852 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv13934208 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided Other specified congenital deformities of hip not provided MGS000063
(TMGS000130) 		Yu Mori
Yu Mori		 Tohoku University
Tohoku University
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.008 Crohn Disease Genotypes of nuclear factor (NF)-κB (NFKB1) NFκB -94ins/del (rs28362491); peroxi... BeFree 21245992 Detail
0.131 ulcerative colitis Genotypes of nuclear factor (NF)-κB (NFKB1) NFκB -94ins/del (rs28362491); peroxi... BeFree 21245992 Detail
0.007 Crohn Disease Genotypes of nuclear factor (NF)-κB (NFKB1) NFκB -94ins/del (rs28362491); peroxi... BeFree 21245992 Detail
0.010 ulcerative colitis PXR A7635G (rs6785049) variant genotype was associated with a higher risk of UC ... BeFree 21245992 Detail
Annotation

Annotations

DescrptionSourceLinks
Genotypes of nuclear factor (NF)-κB (NFKB1) NFκB -94ins/del (rs28362491); peroxisome proliferator-ac... DisGeNET Detail
Genotypes of nuclear factor (NF)-κB (NFKB1) NFκB -94ins/del (rs28362491); peroxisome proliferator-ac... DisGeNET Detail
Genotypes of nuclear factor (NF)-κB (NFKB1) NFκB -94ins/del (rs28362491); peroxisome proliferator-ac... DisGeNET Detail
PXR A7635G (rs6785049) variant genotype was associated with a higher risk of UC diagnosis before the... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs74825699 dbSNP
Genome
hg19
Position
chr3:119,501,965-119,501,965
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs74825699
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.385
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6453
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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