chr3:5013876:T>C Detail (hg19)

Information

Genome

Assembly Position
hg19 chr3:5,013,876-5,013,876
hg38 chr3:4,972,191-4,972,191 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:0.969
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
0.005 bipolar disorder A multi-locus interaction between rs6442925 in the 5' upstream of BHLHB2, rs1534... BeFree 18228528 Detail
0.002 keratoconus [A genome-wide association study identifies a potential novel gene locus for ker... GAD 21979947 Detail
Annotation

Annotations

DescrptionSourceLinks
A multi-locus interaction between rs6442925 in the 5' upstream of BHLHB2, rs1534891 in CSNK1E, and r... DisGeNET Detail
[A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs6442925 dbSNP
Genome
hg19
Position
chr3:5,013,876-5,013,876
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))
rs6442925
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.969
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16241
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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