chr5:151078585:C>T Detail (hg38) (TNIP1)

Information

Genome

Assembly Position
hg19 chr5:150,458,146-150,458,146 View the variant detail on this assembly version.
hg38 chr5:151,078,585-151,078,585

HGVS

Type Transcript Protein
RefSeq NM_001252391.1:c.-37+8500G>A
NM_001252385.1:c.-37+2295G>A
NM_001252393.1:c.-37+2295G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.711
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 607714 OMIM
HGNC 16903 HGNC
Ensembl ENSG00000145901 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv23268352 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
0.266 asthma Multiple single nucleotide polymorphisms in the TNFAIP3 interacting protein 1 (T... BeFree 22694930 Detail
0.250 Lupus Erythematosus, Systemic The T allele of rs10036748 in the TNIP1 gene is the minor protective allele for ... BeFree 22694930 Detail
<0.001 asthma Multiple single nucleotide polymorphisms in the TNFAIP3 interacting protein 1 (T... BeFree 22694930 Detail
0.003 asthma NA GAD Detail
0.268 Lupus Erythematosus, Systemic Associations of TNFAIP3 rs2230926 (p=1.43 × 10(-3)) and TNIP1 rs10036748 (p=4.33... BeFree 23911423 Detail
0.250 Lupus Erythematosus, Systemic [Genome-wide association study in a Chinese Han population identifies nine new s... GAD 19838193 Detail
0.003 asthma The T allele of rs10036748 in the TNIP1 gene is the minor protective allele for ... BeFree 22694930 Detail
0.250 Lupus Erythematosus, Systemic Genome-wide association study in a Chinese Han population identifies nine new su... GWASCAT 19838193 Detail
0.241 systemic scleroderma The T allele of rs10036748 in the TNIP1 gene is the minor protective allele for ... BeFree 22694930 Detail
0.250 Lupus Erythematosus, Systemic Significant associations were found for the single nucleotide polymorphism rs100... BeFree 20516000 Detail
0.246 Lupus Erythematosus, Systemic Significant associations were found for the single nucleotide polymorphism rs100... BeFree 20516000 Detail
Annotation

Annotations

DescrptionSourceLinks
Multiple single nucleotide polymorphisms in the TNFAIP3 interacting protein 1 (TNIP1) gene, which in... DisGeNET Detail
The T allele of rs10036748 in the TNIP1 gene is the minor protective allele for asthma but the minor... DisGeNET Detail
Multiple single nucleotide polymorphisms in the TNFAIP3 interacting protein 1 (TNIP1) gene, which in... DisGeNET Detail
NA DisGeNET Detail
Associations of TNFAIP3 rs2230926 (p=1.43 × 10(-3)) and TNIP1 rs10036748 (p=4.33 × 10(-3)) with SLE ... DisGeNET Detail
[Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci f... DisGeNET Detail
The T allele of rs10036748 in the TNIP1 gene is the minor protective allele for asthma but the minor... DisGeNET Detail
Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci fo... DisGeNET Detail
The T allele of rs10036748 in the TNIP1 gene is the minor protective allele for asthma but the minor... DisGeNET Detail
Significant associations were found for the single nucleotide polymorphism rs10036748 of TNIP1 with ... DisGeNET Detail
Significant associations were found for the single nucleotide polymorphism rs10036748 of TNIP1 with ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs10036748 dbSNP
Genome
hg38
Position
chr5:151,078,585-151,078,585
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs10036748
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.711
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
11917
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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