chr19:40989850:T>C Detail (hg38)

Information

Genome

Assembly Position
hg19 chr19:41,495,755-41,495,755 View the variant detail on this assembly version.
hg38 chr19:40,989,850-40,989,850

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.189
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 Hirschsprung Disease Associations Between CYP2B6 rs707265, rs1042389, rs2054675, and Hirschsprung Dis... BeFree 25424204 Detail
<0.001 Hirschsprung disease 1 Associations Between CYP2B6 rs707265, rs1042389, rs2054675, and Hirschsprung Dis... BeFree 25424204 Detail
Annotation

Annotations

DescrptionSourceLinks
Associations Between CYP2B6 rs707265, rs1042389, rs2054675, and Hirschsprung Disease in a Chinese Po... DisGeNET Detail
Associations Between CYP2B6 rs707265, rs1042389, rs2054675, and Hirschsprung Disease in a Chinese Po... DisGeNET Detail
Gene
-
dbSNP
rs2054675 dbSNP
Genome
hg38
Position
chr19:40,989,850-40,989,850
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))
rs2054675
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.189
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3167
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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