chr10:60391257:C>T Detail (hg38) (ANK3)

Information

Genome

Assembly Position
hg19 chr10:62,151,015-62,151,015 View the variant detail on this assembly version.
hg38 chr10:60,391,257-60,391,257

HGVS

Type Transcript Protein
RefSeq NM_001204403.1:c.97-111618G>A
NM_001204404.1:c.64-111618G>A
Ensemble ENST00000373827.6:c.97-111618G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.370
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 tgv39462499 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
0.266 bipolar disorder Due to evidence of genetic overlap between schizophrenia and BD, we investigated... BeFree 23109352 Detail
Annotation

Annotations

DescrptionSourceLinks
Due to evidence of genetic overlap between schizophrenia and BD, we investigated common findings by ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3808943 dbSNP
Genome
hg38
Position
chr10:60,391,257-60,391,257
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))
rs3808943
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3695
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6193
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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