chr5:140633722:G>A Detail (hg38)

Information

Genome

Assembly Position
hg19 chr5:140,013,307-140,013,307 View the variant detail on this assembly version.
hg38 chr5:140,633,722-140,633,722

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.276
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 Childhood asthma Four SNPs, rs2569191 (-1145GA), rs5744455 (-550CT or -651CT), rs2569190 (-159CT ... BeFree 20398919 Detail
0.006 acute pancreatitis -651C/T promoter polymorphism in the CD14 gene is associated with severity of ac... BeFree 19997857 Detail
Annotation

Annotations

DescrptionSourceLinks
Four SNPs, rs2569191 (-1145GA), rs5744455 (-550CT or -651CT), rs2569190 (-159CT or -260CT), and rs49... DisGeNET Detail
-651C/T promoter polymorphism in the CD14 gene is associated with severity of acute pancreatitis in ... DisGeNET Detail
Gene
-
dbSNP
rs5744455 dbSNP
Genome
hg38
Position
chr5:140,633,722-140,633,722
Variant Type
snv
Reference Allele
G
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))
rs5744455
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2763
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4630
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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