chr19:17752689:A>C Detail (hg19) (UNC13A)

Information

Genome

Assembly Position
hg19 chr19:17,752,689-17,752,689
hg38 chr19:17,641,880-17,641,880 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001080421.2:c.2473-324T>G
Ensemble ENST00000519716.7:c.2473-324T>G
ENST00000550896.1:c.2467-324T>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.741
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 609894 OMIM
HGNC 23150 HGNC
Ensembl ENSG00000130477 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv61461360 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
0.366 amyotrophic lateral sclerosis Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as suscepti... GWASCAT 19734901 Detail
0.366 amyotrophic lateral sclerosis C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and fr... GWASCAT 24931836 Detail
0.366 amyotrophic lateral sclerosis The common variant rs12608932, located within an intron of UNC13A gene on chromo... BeFree 22921269 Detail
<0.001 Amyotrophic Lateral Sclerosis, Sporadic A large genome-wide screen in patients with sporadic amyotrophic lateral scleros... BeFree 22118904 Detail
0.366 amyotrophic lateral sclerosis Recently, four single nucleotide polymorphisms (SNPs), including rs2814707 in th... BeFree 24493373 Detail
0.366 amyotrophic lateral sclerosis [Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as suscept... GAD 19734901 Detail
0.003 amyotrophic lateral sclerosis Recently, four single nucleotide polymorphisms (SNPs), including rs2814707 in th... BeFree 24493373 Detail
0.366 amyotrophic lateral sclerosis Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1. GWASCAT 22959728 Detail
Annotation

Annotations

DescrptionSourceLinks
Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for spor... DisGeNET Detail
C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementi... DisGeNET Detail
The common variant rs12608932, located within an intron of UNC13A gene on chromosome 19p13.3, has be... DisGeNET Detail
A large genome-wide screen in patients with sporadic amyotrophic lateral sclerosis (ALS) showed that... DisGeNET Detail
Recently, four single nucleotide polymorphisms (SNPs), including rs2814707 in the 9p21, rs12608932 i... DisGeNET Detail
[Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for spo... DisGeNET Detail
Recently, four single nucleotide polymorphisms (SNPs), including rs2814707 in the 9p21, rs12608932 i... DisGeNET Detail
Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1. DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs12608932 dbSNP
Genome
hg19
Position
chr19:17,752,689-17,752,689
Variant Type
snv
Reference Allele
A
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))
rs12608932
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.7411
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
12421
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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