chr9:6210099:T>C Detail (hg38)

Information

Genome

Assembly Position
hg19 chr9:6,210,099-6,210,099 View the variant detail on this assembly version.
hg38 chr9:6,210,099-6,210,099

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.971
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 Eosinophilia We recruited 284 patients with NP in four participating hospitals in Belgium and... BeFree 19860791 Detail
<0.001 Disorder characterized by eosinophilia We recruited 284 patients with NP in four participating hospitals in Belgium and... BeFree 19860791 Detail
<0.001 Eosinophilic disorder We recruited 284 patients with NP in four participating hospitals in Belgium and... BeFree 19860791 Detail
0.002 ulcerative colitis Upon genotype-phenotype evaluation, an increased frequency of extensive colitis ... BeFree 23634226 Detail
0.001 colitis Upon genotype-phenotype evaluation, an increased frequency of extensive colitis ... BeFree 23634226 Detail
Annotation

Annotations

DescrptionSourceLinks
We recruited 284 patients with NP in four participating hospitals in Belgium and 427 healthy control... DisGeNET Detail
We recruited 284 patients with NP in four participating hospitals in Belgium and 427 healthy control... DisGeNET Detail
We recruited 284 patients with NP in four participating hospitals in Belgium and 427 healthy control... DisGeNET Detail
Upon genotype-phenotype evaluation, an increased frequency of extensive colitis in adult UC (P = 0.0... DisGeNET Detail
Upon genotype-phenotype evaluation, an increased frequency of extensive colitis in adult UC (P = 0.0... DisGeNET Detail
Gene
-
dbSNP
rs3939286 dbSNP
Genome
hg38
Position
chr9:6,210,099-6,210,099
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))
rs3939286
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.9715
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16282
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser