chr10:61839831:C>T Detail (hg19) (ANK3)

Information

Genome

Assembly Position
hg19 chr10:61,839,831-61,839,831
hg38 chr10:60,080,073-60,080,073 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001204403.1:c.4387+464G>A
NM_001204404.1:c.4408+464G>A
NM_001149.3:c.1807+464G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.091
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 600465 OMIM
HGNC 494 HGNC
Ensembl ENSG00000151150 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv39455050 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
<0.001 Unipolar Depression We genotyped three single nucleotide polymorphisms (SNPs) in ANK3 (rs9804190, rs... BeFree 21702894 Detail
Annotation

Annotations

DescrptionSourceLinks
We genotyped three single nucleotide polymorphisms (SNPs) in ANK3 (rs9804190, rs10994336, and rs1076... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs9804190 dbSNP
Genome
hg19
Position
chr10:61,839,831-61,839,831
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))
rs9804190
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0909
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1524
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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