chr5:140635623:G>C Detail (hg38)

Information

Genome

Assembly Position
hg19 chr5:140,015,208-140,015,208 View the variant detail on this assembly version.
hg38 chr5:140,635,623-140,635,623

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.194
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
Annotation

Annotations

DescrptionSourceLinks
Of the remaining 15 SNPs, for seven we found significant relationships between genotype and endotoxi... DisGeNET Detail
Gene
-
dbSNP
rs2569192 dbSNP
Genome
hg38
Position
chr5:140,635,623-140,635,623
Variant Type
snv
Reference Allele
G
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))
rs2569192
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1938
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3248
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser