chr6:24491247:A>C Detail (hg38)

Information

Genome

Assembly Position
hg19 chr6:24,491,475-24,491,475 View the variant detail on this assembly version.
hg38 chr6:24,491,247-24,491,247

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.197
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
0.003 Epilepsy, Generalized Allelic associations with generalized epilepsies have been reported for single n... BeFree 22082659 Detail
0.005 Alkaline Phosphatase Adverse Event [Genome-wide association study identifies loci influencing concentrations of liv... GAD 22001757 Detail
Annotation

Annotations

DescrptionSourceLinks
Allelic associations with generalized epilepsies have been reported for single nucleotide polymorphi... DisGeNET Detail
[Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma... DisGeNET Detail
Gene
-
dbSNP
rs1883415 dbSNP
Genome
hg38
Position
chr6:24,491,247-24,491,247
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))
rs1883415
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1971
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3303
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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