chr1:187433789:T>A Detail (hg38)

Information

Genome

Assembly Position
hg19 chr1:187,402,921-187,402,921 View the variant detail on this assembly version.
hg38 chr1:187,433,789-187,433,789

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.164
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 bronchopulmonary dysplasia Following stratification by ethnicity, variants of the ANK3 gene (rs1938516 and ... BeFree 24914473 Detail
0.001 borderline personality disorder Following stratification by ethnicity, variants of the ANK3 gene (rs1938516 and ... BeFree 24914473 Detail
Annotation

Annotations

DescrptionSourceLinks
Following stratification by ethnicity, variants of the ANK3 gene (rs1938516 and rs10994336) were fou... DisGeNET Detail
Following stratification by ethnicity, variants of the ANK3 gene (rs1938516 and rs10994336) were fou... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1938516 dbSNP
Genome
hg38
Position
chr1:187,433,789-187,433,789
Variant Type
snv
Reference Allele
T
Alternative Allele
A
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))
rs1938516
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1644
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2756
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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