chr5:140634318:C>T Detail (hg38)

Information

Genome

Assembly Position
hg19 chr5:140,013,903-140,013,903 View the variant detail on this assembly version.
hg38 chr5:140,634,318-140,634,318

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.470
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 Wheezing Of the remaining 15 SNPs, for seven we found significant relationships between g... BeFree 25102764 Detail
0.001 Childhood asthma Four SNPs, rs2569191 (-1145GA), rs5744455 (-550CT or -651CT), rs2569190 (-159CT ... BeFree 20398919 Detail
Annotation

Annotations

DescrptionSourceLinks
Of the remaining 15 SNPs, for seven we found significant relationships between genotype and endotoxi... DisGeNET Detail
Four SNPs, rs2569191 (-1145GA), rs5744455 (-550CT or -651CT), rs2569190 (-159CT or -260CT), and rs49... DisGeNET Detail
Gene
-
dbSNP
rs2569191 dbSNP
Genome
hg38
Position
chr5:140,634,318-140,634,318
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))
rs2569191
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4703
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7883
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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