chr3:119501039:C>A Detail (hg19) (NR1I2)

Information

Genome

Assembly Position
hg19 chr3:119,501,039-119,501,039
hg38 chr3:119,782,192-119,782,192 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_003889.3:c.-131C>A
NM_033013.2:c.-131C>A
Ensemble ENST00000393716.8:c.-131C>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.731
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 tgv13934139 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
0.007 Crohn Disease Genomic DNA from 2823 individuals of Caucasian origin including 859 patients wit... BeFree 21830270 Detail
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
Annotation

Annotations

DescrptionSourceLinks
Genomic DNA from 2823 individuals of Caucasian origin including 859 patients with Crohn's disease (C... 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
Genotypes of nuclear factor (NF)-κB (NFKB1) NFκB -94ins/del (rs28362491); peroxisome proliferator-ac... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1523127 dbSNP
Genome
hg19
Position
chr3:119,501,039-119,501,039
Variant Type
snv
Reference Allele
C
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))
rs1523127
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.731
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
12252
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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