chr21:32918294:C>T Detail (hg19) (TIAM1)

Information

Genome

Assembly Position
hg19 chr21:32,918,294-32,918,294
hg38 chr21:31,545,981-31,545,981 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_003253.2:c.-422+12946G>A
Ensemble ENST00000286827.7:c.-422+12946G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.014
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 600687 OMIM
HGNC 11805 HGNC
Ensembl ENSG00000156299 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv64840891 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 Recently, four single nucleotide polymorphisms (SNPs), including rs2814707 in th... BeFree 24493373 Detail
0.003 amyotrophic lateral sclerosis Recently, four single nucleotide polymorphisms (SNPs), including rs2814707 in th... BeFree 24493373 Detail
0.122 amyotrophic lateral sclerosis [The chromosome 9p21 locus is a major cause of familial ALS in the Finnish popul... GAD 20801718 Detail
0.122 amyotrophic lateral sclerosis Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide assoc... GWASCAT 20801718 Detail
Annotation

Annotations

DescrptionSourceLinks
Recently, four single nucleotide polymorphisms (SNPs), including rs2814707 in the 9p21, rs12608932 i... DisGeNET Detail
Recently, four single nucleotide polymorphisms (SNPs), including rs2814707 in the 9p21, rs12608932 i... DisGeNET Detail
[The chromosome 9p21 locus is a major cause of familial ALS in the Finnish population. Our data sugg... DisGeNET Detail
Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study. DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs13048019 dbSNP
Genome
hg19
Position
chr21:32,918,294-32,918,294
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))
rs13048019
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0141
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
236
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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