chr19:41808432:A>T Detail (hg19) (HNRNPUL1)

Information

Genome

Assembly Position
hg19 chr19:41,808,432-41,808,432
hg38 chr19:41,302,527-41,302,527 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001301016.2:c.1421-138A>T
NM_144732.4:c.1388-138A>T
NM_001321208.1:c.1688-138A>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.167
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.431

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 605800 OMIM
HGNC 17011 HGNC
Ensembl ENSG00000105323 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv62131685 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
0.006 coronary artery disease The HNRPUL1 gene rs11881940T and GATA2 gene rs3803T loci were highly correlated ... BeFree 24782050 Detail
0.016 Coronary heart disease We confirmed the associations between four polymorphisms and CHD, the rs1151640 ... BeFree 18599554 Detail
0.016 Coronary heart disease We confirmed the associations between four polymorphisms and CHD, the rs1151640 ... BeFree 18599554 Detail
0.007 Coronary heart disease We confirmed the associations between four polymorphisms and CHD, the rs1151640 ... BeFree 18599554 Detail
0.005 Coronary heart disease We confirmed the associations between four polymorphisms and CHD, the rs1151640 ... BeFree 18599554 Detail
0.005 Coronary heart disease We confirmed the associations between four polymorphisms and CHD, the rs1151640 ... BeFree 18599554 Detail
<0.001 coronary artery disease Analysis of the rs10757278, rs11881940 and rs3803 loci showed that haplotypes AT... BeFree 24782050 Detail
0.002 coronary artery disease Analysis of the rs10757278, rs11881940 and rs3803 loci showed that haplotypes AT... BeFree 24782050 Detail
Annotation

Annotations

DescrptionSourceLinks
The HNRPUL1 gene rs11881940T and GATA2 gene rs3803T loci were highly correlated with CAD (P &lt; 0.0... DisGeNET Detail
We confirmed the associations between four polymorphisms and CHD, the rs1151640 polymorphism in the ... DisGeNET Detail
We confirmed the associations between four polymorphisms and CHD, the rs1151640 polymorphism in the ... DisGeNET Detail
We confirmed the associations between four polymorphisms and CHD, the rs1151640 polymorphism in the ... DisGeNET Detail
We confirmed the associations between four polymorphisms and CHD, the rs1151640 polymorphism in the ... DisGeNET Detail
We confirmed the associations between four polymorphisms and CHD, the rs1151640 polymorphism in the ... DisGeNET Detail
Analysis of the rs10757278, rs11881940 and rs3803 loci showed that haplotypes ATC (OR = 4.26; 95%CI ... DisGeNET Detail
Analysis of the rs10757278, rs11881940 and rs3803 loci showed that haplotypes ATC (OR = 4.26; 95%CI ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs11881940 dbSNP
Genome
hg19
Position
chr19:41,808,432-41,808,432
Variant Type
snv
Reference Allele
A
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))
rs11881940
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1674
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2805
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
3798
East Asian Allele Counts (ExAC)
1638
East Asian Heterozygous Counts (ExAC)
1166
East Asian Homozygous Counts (ExAC)
236
East Asian Allele Frequency (ExAC)
0.4312796208530806
Chromosome Counts in All Race (ExAC)
43120
Allele Counts in All Race (ExAC)
11151
Heterozygous Counts in All Race (ExAC)
9433
Homozygous Counts in All Race (ExAC)
859
Allele Frequency in All Race (ExAC)
0.2586038961038961
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