chr9:27543281:T>C Detail (hg19)

Information

Genome

Assembly Position
hg19 chr9:27,543,281-27,543,281
hg38 chr9:27,543,283-27,543,283 View the variant detail on this assembly version.

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.903
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
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 amyotrophic lateral sclerosis In this analysis, two single nucleotide polymorphisms in a locus on chromosome 9... BeFree 20801717 Detail
0.003 amyotrophic lateral sclerosis [Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as suscept... GAD 19734901 Detail
0.176 amyotrophic lateral sclerosis [Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as suscept... GAD 19734901 Detail
0.005 amyotrophic lateral sclerosis [Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as suscept... GAD 19734901 Detail
0.005 amyotrophic lateral sclerosis [The chromosome 9p21 locus is a major cause of familial ALS in the Finnish popul... GAD 20801718 Detail
Annotation

Annotations

DescrptionSourceLinks
In this analysis, two single nucleotide polymorphisms in a locus on chromosome 9p21.2 were associate... DisGeNET Detail
[Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for spo... DisGeNET Detail
[Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for spo... DisGeNET Detail
[Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for spo... DisGeNET Detail
[The chromosome 9p21 locus is a major cause of familial ALS in the Finnish population. Our data sugg... DisGeNET Detail
Gene
-
dbSNP
rs3849942 dbSNP
Genome
hg19
Position
chr9:27,543,281-27,543,281
Variant Type
snv
Reference Allele
T
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))
rs3849942
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.9027
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
15130
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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