chr9:4981602:C>A Detail (hg38)

Information

Genome

Assembly Position
hg19 chr9:4,981,602-4,981,602 View the variant detail on this assembly version.
hg38 chr9:4,981,602-4,981,602

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.647
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
0.005 polycythemia vera Three additional JAK2 SNPs (rs10758669, rs3808850, and rs10974947) and a single ... BeFree 18006699 Detail
0.131 ulcerative colitis JAK2 rs10758669 polymorphisms and susceptibility to ulcerative colitis and Crohn... BeFree 24385239 Detail
0.135 ulcerative colitis Our data confirm the association between JAK2 rs10758669 (p = 0.026, OR = 1.25, ... BeFree 22065112 Detail
0.005 ulcerative colitis [Genome-wide association identifies multiple ulcerative colitis susceptibility l... GAD 20228799 Detail
0.001 ulcerative colitis Here, we studied the susceptibility nature of three components of IL23 signallin... BeFree 22269120 Detail
0.133 Inflammatory Bowel Diseases We analysed five variants (rs10758669 within JAK2, rs744166 within STAT3, rs4958... BeFree 22065112 Detail
0.014 Crohn Disease The JAK2 variant rs10758669 in Crohn's disease: altering the intestinal barrier ... BeFree 22065112 Detail
0.014 Crohn Disease [Genome-wide association defines more than 30 distinct susceptibility loci for C... GAD 18587394 Detail
0.005 ulcerative colitis [Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing... GAD 21297633 Detail
<0.001 Primary myelofibrosis Three additional JAK2 SNPs (rs10758669, rs3808850, and rs10974947) and a single ... BeFree 18006699 Detail
0.003 Thrombocythemia, Essential Three additional JAK2 SNPs (rs10758669, rs3808850, and rs10974947) and a single ... BeFree 18006699 Detail
0.131 ulcerative colitis Our data confirm the association between JAK2 rs10758669 (p = 0.026, OR = 1.25, ... BeFree 22065112 Detail
0.131 ulcerative colitis [Genome-wide association identifies multiple ulcerative colitis susceptibility l... GAD 20228799 Detail
0.014 Crohn Disease JAK2 rs10758669 polymorphisms and susceptibility to ulcerative colitis and Crohn... BeFree 24385239 Detail
0.002 Crohn Disease [Genome-wide association defines more than 30 distinct susceptibility loci for C... GAD 18587394 Detail
Annotation

Annotations

DescrptionSourceLinks
Three additional JAK2 SNPs (rs10758669, rs3808850, and rs10974947) and a single EPOR SNP (rs318699) ... DisGeNET Detail
JAK2 rs10758669 polymorphisms and susceptibility to ulcerative colitis and Crohn's disease: a meta-a... DisGeNET Detail
Our data confirm the association between JAK2 rs10758669 (p = 0.026, OR = 1.25, 95% CI = 1.04-1.50) ... DisGeNET Detail
[Genome-wide association identifies multiple ulcerative colitis susceptibility loci.] DisGeNET Detail
Here, we studied the susceptibility nature of three components of IL23 signalling and Th17 cell diff... DisGeNET Detail
We analysed five variants (rs10758669 within JAK2, rs744166 within STAT3, rs4958847, rs11747270 and ... DisGeNET Detail
The JAK2 variant rs10758669 in Crohn's disease: altering the intestinal barrier as one mechanism of ... DisGeNET Detail
[Genome-wide association defines more than 30 distinct susceptibility loci for Crohn\'s disease.] DisGeNET Detail
[Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confi... DisGeNET Detail
Three additional JAK2 SNPs (rs10758669, rs3808850, and rs10974947) and a single EPOR SNP (rs318699) ... DisGeNET Detail
Three additional JAK2 SNPs (rs10758669, rs3808850, and rs10974947) and a single EPOR SNP (rs318699) ... DisGeNET Detail
Our data confirm the association between JAK2 rs10758669 (p = 0.026, OR = 1.25, 95% CI = 1.04-1.50) ... DisGeNET Detail
[Genome-wide association identifies multiple ulcerative colitis susceptibility loci.] DisGeNET Detail
JAK2 rs10758669 polymorphisms and susceptibility to ulcerative colitis and Crohn's disease: a meta-a... DisGeNET Detail
[Genome-wide association defines more than 30 distinct susceptibility loci for Crohn\'s disease.] DisGeNET Detail
Gene
-
dbSNP
rs10758669 dbSNP
Genome
hg38
Position
chr9:4,981,602-4,981,602
Variant Type
snv
Reference Allele
C
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))
rs10758669
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6472
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
10847
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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