chr11:130750642:A>T Detail (hg19) (SNX19)

Information

Genome

Assembly Position
hg19 chr11:130,750,642-130,750,642
hg38 chr11:130,880,747-130,880,747 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001301089.1:c.2633T>A NP_001288018.1:p.Leu878Gln
NM_014758.2:c.2633T>A NP_055573.2:p.Leu878Gln
Ensemble ENST00000528555.5:c.773T>A ENST00000528555.5:p.Leu258Gln
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM
HGNC 21532 HGNC
Ensembl ENSG00000120451 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM3998336 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 arteriosclerosis We considered five variants that were associated with coronary heart disease in ... BeFree 18073581 Detail
0.003 atherosclerosis We considered five variants that were associated with coronary heart disease in ... BeFree 18073581 Detail
0.002 Coronary Arteriosclerosis We considered five variants that were associated with coronary heart disease in ... BeFree 18073581 Detail
<0.001 arteriosclerosis We considered five variants that were associated with coronary heart disease in ... BeFree 18073581 Detail
0.006 atherosclerosis We considered five variants that were associated with coronary heart disease in ... BeFree 18073581 Detail
0.007 Coronary heart disease We considered five variants that were associated with coronary heart disease in ... BeFree 18073581 Detail
<0.001 arteriosclerosis We considered five variants that were associated with coronary heart disease in ... BeFree 18073581 Detail
<0.001 arteriosclerosis We considered five variants that were associated with coronary heart disease in ... BeFree 18073581 Detail
0.010 Coronary heart disease We considered five variants that were associated with coronary heart disease in ... BeFree 18073581 Detail
0.007 Coronary heart disease We considered five variants that were associated with coronary heart disease in ... BeFree 18073581 Detail
<0.001 Coronary Arteriosclerosis We considered five variants that were associated with coronary heart disease in ... BeFree 18073581 Detail
<0.001 Coronary Arteriosclerosis We considered five variants that were associated with coronary heart disease in ... BeFree 18073581 Detail
0.025 Coronary heart disease We considered five variants that were associated with coronary heart disease in ... BeFree 18073581 Detail
0.003 atherosclerosis We considered five variants that were associated with coronary heart disease in ... BeFree 18073581 Detail
<0.001 Coronary Arteriosclerosis We considered five variants that were associated with coronary heart disease in ... BeFree 18073581 Detail
0.003 atherosclerosis We considered five variants that were associated with coronary heart disease in ... BeFree 18073581 Detail
Annotation

Annotations

DescrptionSourceLinks
We considered five variants that were associated with coronary heart disease in two studies and conf... DisGeNET Detail
We considered five variants that were associated with coronary heart disease in two studies and conf... DisGeNET Detail
We considered five variants that were associated with coronary heart disease in two studies and conf... DisGeNET Detail
We considered five variants that were associated with coronary heart disease in two studies and conf... DisGeNET Detail
We considered five variants that were associated with coronary heart disease in two studies and conf... DisGeNET Detail
We considered five variants that were associated with coronary heart disease in two studies and conf... DisGeNET Detail
We considered five variants that were associated with coronary heart disease in two studies and conf... DisGeNET Detail
We considered five variants that were associated with coronary heart disease in two studies and conf... DisGeNET Detail
We considered five variants that were associated with coronary heart disease in two studies and conf... DisGeNET Detail
We considered five variants that were associated with coronary heart disease in two studies and conf... DisGeNET Detail
We considered five variants that were associated with coronary heart disease in two studies and conf... DisGeNET Detail
We considered five variants that were associated with coronary heart disease in two studies and conf... DisGeNET Detail
We considered five variants that were associated with coronary heart disease in two studies and conf... DisGeNET Detail
We considered five variants that were associated with coronary heart disease in two studies and conf... DisGeNET Detail
We considered five variants that were associated with coronary heart disease in two studies and conf... DisGeNET Detail
We considered five variants that were associated with coronary heart disease in two studies and conf... 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
-
Genome
hg19
Position
chr11:130,750,642-130,750,642
Variant Type
snv
Reference Allele
A
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8642
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121360
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
0
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.239947264337508E-6
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