chr19:50880741:T>C Detail (hg19) (NR1H2)

Information

Genome

Assembly Position
hg19 chr19:50,880,741-50,880,741
hg38 chr19:50,377,484-50,377,484 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_007121.5:c.-19-103T>C
NM_001256647.1:c.-19-103T>C
Ensemble ENST00000253727.10:c.-19-103T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.920
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 600380 OMIM
HGNC 7965 HGNC
Ensembl ENSG00000131408 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv62493956 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
0.008 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
0.001 gallbladder carcinoma Multidimensional reduction analysis revealed LXR-β (rs3546355 G > A, rs269512... BeFree 24863943 Detail
<0.001 gallbladder carcinoma Multidimensional reduction analysis revealed LXR-β (rs3546355 G &gt; A, rs269512... BeFree 24863943 Detail
<0.001 Malignant neoplasm of gallbladder Multidimensional reduction analysis revealed LXR-β (rs3546355 G &gt; A, rs269512... BeFree 24863943 Detail
0.001 Malignant neoplasm of gallbladder Multidimensional reduction analysis revealed LXR-β (rs3546355 G &gt; A, rs269512... BeFree 24863943 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
Multidimensional reduction analysis revealed LXR-β (rs3546355 G &gt; A, rs2695121 T &gt; C), MMP-2 (... DisGeNET Detail
Multidimensional reduction analysis revealed LXR-β (rs3546355 G &gt; A, rs2695121 T &gt; C), MMP-2 (... DisGeNET Detail
Multidimensional reduction analysis revealed LXR-β (rs3546355 G &gt; A, rs2695121 T &gt; C), MMP-2 (... DisGeNET Detail
Multidimensional reduction analysis revealed LXR-β (rs3546355 G &gt; A, rs2695121 T &gt; C), MMP-2 (... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2695121 dbSNP
Genome
hg19
Position
chr19:50,880,741-50,880,741
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs2695121
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.9197
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
15409
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16754
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