chr8:11349186:G>A Detail (hg19)

Information

Genome

Assembly Position
hg19 chr8:11,349,186-11,349,186
hg38 chr8:11,491,677-11,491,677 View the variant detail on this assembly version.

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.684
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 polymyositis The C8orf13-BLK rs13277113A allele was associated with overall polymyositis/derm... BeFree 24632671 Detail
<0.001 Adult type dermatomyositis The C8orf13-BLK rs13277113A allele was associated with overall polymyositis/derm... BeFree 24632671 Detail
0.273 Lupus Erythematosus, Systemic [Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.] GAD 18204098 Detail
0.128 rheumatoid arthritis We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and ... BeFree 21765104 Detail
0.019 Lupus Erythematosus, Systemic [Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.] GAD 18204098 Detail
0.273 Lupus Erythematosus, Systemic [The genetic contribution towards predicting early-onset disease in patients wit... GAD 20881011 Detail
0.019 Lupus Erythematosus, Systemic Our findings indicate that the rs13277113A allele is associated not only with SL... BeFree 20131239 Detail
0.006 Lupus Erythematosus, Systemic We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and ... BeFree 21765104 Detail
<0.001 Diabetes Mellitus, Insulin-Dependent We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and ... BeFree 21765104 Detail
0.019 multiple sclerosis We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and ... BeFree 21765104 Detail
<0.001 polymyositis The C8orf13-BLK rs13277113A allele was associated with overall polymyositis/derm... BeFree 24632671 Detail
<0.001 Adult type dermatomyositis The C8orf13-BLK rs13277113A allele was associated with overall polymyositis/derm... BeFree 24632671 Detail
0.005 rheumatoid arthritis We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and ... BeFree 21765104 Detail
0.273 Lupus Erythematosus, Systemic Our findings indicate that the rs13277113A allele is associated not only with SL... BeFree 20131239 Detail
0.019 Lupus Erythematosus, Systemic We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and ... BeFree 21765104 Detail
<0.001 Lung Diseases, Interstitial No association was observed between the C8orf13-BLK rs13277113A allele and eithe... BeFree 24632671 Detail
<0.001 multiple sclerosis We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and ... BeFree 21765104 Detail
0.134 Diabetes Mellitus, Insulin-Dependent We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and ... BeFree 21765104 Detail
<0.001 multiple sclerosis We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and ... BeFree 21765104 Detail
0.003 Diabetes Mellitus, Insulin-Dependent We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and ... BeFree 21765104 Detail
0.273 Lupus Erythematosus, Systemic We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and ... BeFree 21765104 Detail
0.121 rheumatoid arthritis A characteristic single-nucleotide polymorphism (SNP) in each of 9 genetic facto... BeFree 19714582 Detail
0.125 rheumatoid arthritis A characteristic single-nucleotide polymorphism (SNP) in each of 9 genetic facto... BeFree 19714582 Detail
<0.001 rheumatoid arthritis A characteristic single-nucleotide polymorphism (SNP) in each of 9 genetic facto... BeFree 19714582 Detail
0.003 rheumatoid arthritis A characteristic single-nucleotide polymorphism (SNP) in each of 9 genetic facto... BeFree 19714582 Detail
Annotation

Annotations

DescrptionSourceLinks
The C8orf13-BLK rs13277113A allele was associated with overall polymyositis/dermatomyositis (P&lt;0.... DisGeNET Detail
The C8orf13-BLK rs13277113A allele was associated with overall polymyositis/dermatomyositis (P&lt;0.... DisGeNET Detail
[Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.] DisGeNET Detail
We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and rs2736340 (p = 0.000... DisGeNET Detail
[Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.] DisGeNET Detail
[The genetic contribution towards predicting early-onset disease in patients with SLE is quantified ... DisGeNET Detail
Our findings indicate that the rs13277113A allele is associated not only with SLE but also with SSc ... DisGeNET Detail
We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and rs2736340 (p = 0.000... DisGeNET Detail
We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and rs2736340 (p = 0.000... DisGeNET Detail
We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and rs2736340 (p = 0.000... DisGeNET Detail
The C8orf13-BLK rs13277113A allele was associated with overall polymyositis/dermatomyositis (P&lt;0.... DisGeNET Detail
The C8orf13-BLK rs13277113A allele was associated with overall polymyositis/dermatomyositis (P&lt;0.... DisGeNET Detail
We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and rs2736340 (p = 0.000... DisGeNET Detail
Our findings indicate that the rs13277113A allele is associated not only with SLE but also with SSc ... DisGeNET Detail
We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and rs2736340 (p = 0.000... DisGeNET Detail
No association was observed between the C8orf13-BLK rs13277113A allele and either interstitial lung ... DisGeNET Detail
We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and rs2736340 (p = 0.000... DisGeNET Detail
We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and rs2736340 (p = 0.000... DisGeNET Detail
We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and rs2736340 (p = 0.000... DisGeNET Detail
We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and rs2736340 (p = 0.000... DisGeNET Detail
We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and rs2736340 (p = 0.000... DisGeNET Detail
A characteristic single-nucleotide polymorphism (SNP) in each of 9 genetic factors, ITGAM (rs1143679... DisGeNET Detail
A characteristic single-nucleotide polymorphism (SNP) in each of 9 genetic factors, ITGAM (rs1143679... DisGeNET Detail
A characteristic single-nucleotide polymorphism (SNP) in each of 9 genetic factors, ITGAM (rs1143679... DisGeNET Detail
A characteristic single-nucleotide polymorphism (SNP) in each of 9 genetic factors, ITGAM (rs1143679... DisGeNET Detail
Gene
-
dbSNP
rs13277113 dbSNP
Genome
hg19
Position
chr8:11,349,186-11,349,186
Variant Type
snv
Reference Allele
G
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))
rs13277113
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6842
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
11467
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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