chr1:236296485:T>G Detail (hg38)

Information

Genome

Assembly Position
hg19 chr1:236,459,785-236,459,785 View the variant detail on this assembly version.
hg38 chr1:236,296,485-236,296,485

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.075
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
0.003 asthma Polymorphisms at the loci of nearby genes for NRG1 (rs4512342) and ERO1LB (rs109... BeFree 18395550 Detail
0.003 asthma Polymorphisms at the loci of nearby genes for NRG1 (rs4512342) and ERO1LB (rs109... BeFree 18395550 Detail
Annotation

Annotations

DescrptionSourceLinks
Polymorphisms at the loci of nearby genes for NRG1 (rs4512342) and ERO1LB (rs10924993) were associat... DisGeNET Detail
Polymorphisms at the loci of nearby genes for NRG1 (rs4512342) and ERO1LB (rs10924993) were associat... DisGeNET Detail
Gene
-
dbSNP
rs10924993 dbSNP
Genome
hg38
Position
chr1:236,296,485-236,296,485
Variant Type
snv
Reference Allele
T
Alternative Allele
G
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))
rs10924993
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0752
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1260
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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