chr4:102505182:T>C Detail (hg38) (NFKB1)

Information

Genome

Assembly Position
hg19 chr4:103,426,339-103,426,339 View the variant detail on this assembly version.
hg38 chr4:102,505,182-102,505,182

HGVS

Type Transcript Protein
RefSeq NM_003998.3:c.-8+3394T>C
NM_001165412.1:c.-8+3394T>C
NM_001319226.1:c.-8+3015T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.362
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 164011 OMIM
HGNC 7794 HGNC
Ensembl ENSG00000109320 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv18079839 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
0.059 coronary artery disease Statistically significant results found for the various QTs and SNPs were: rs377... BeFree 22116284 Detail
0.002 coronary artery disease Statistically significant results found for the various QTs and SNPs were: rs377... BeFree 22116284 Detail
0.010 coronary artery disease Statistically significant results found for the various QTs and SNPs were: rs377... BeFree 22116284 Detail
0.150 coronary artery disease Statistically significant results found for the various QTs and SNPs were: rs377... BeFree 22116284 Detail
0.024 coronary artery disease Statistically significant results found for the various QTs and SNPs were: rs377... BeFree 22116284 Detail
Annotation

Annotations

DescrptionSourceLinks
Statistically significant results found for the various QTs and SNPs were: rs3774933, rs230528, rs23... DisGeNET Detail
Statistically significant results found for the various QTs and SNPs were: rs3774933, rs230528, rs23... DisGeNET Detail
Statistically significant results found for the various QTs and SNPs were: rs3774933, rs230528, rs23... DisGeNET Detail
Statistically significant results found for the various QTs and SNPs were: rs3774933, rs230528, rs23... DisGeNET Detail
Statistically significant results found for the various QTs and SNPs were: rs3774933, rs230528, rs23... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3774933 dbSNP
Genome
hg38
Position
chr4:102,505,182-102,505,182
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))
rs3774933
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3622
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6070
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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