chr5:158822645:G>C Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:158,822,645-158,822,645 |
| hg38 | chr5:159,395,637-159,395,637 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:0.434 | |
| 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 | Autoimmune Diseases | Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7... | BeFree | 22194214 | Detail |
| 0.010 | multiple sclerosis | Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7... | BeFree | 22194214 | Detail |
| <0.001 | multiple sclerosis | Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7... | BeFree | 22194214 | Detail |
| 0.001 | multiple sclerosis | Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7... | BeFree | 22194214 | Detail |
| <0.001 | multiple sclerosis | Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7... | BeFree | 22194214 | Detail |
| 0.002 | Autoimmune Diseases | Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7... | BeFree | 22194214 | Detail |
| <0.001 | multiple sclerosis | Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7... | BeFree | 22194214 | Detail |
| <0.001 | multiple sclerosis | Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7... | BeFree | 22194214 | Detail |
| <0.001 | Autoimmune Diseases | Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7... | BeFree | 22194214 | Detail |
| 0.002 | Psoriasis vulgaris | For both PA and PV, we detected the strongest association with two IL12B single-... | BeFree | 18800148 | Detail |
| 0.135 | Arthritis, Psoriatic | Meta-analysis of IL12B polymorphisms (rs3212227, rs6887695) with psoriasis and p... | BeFree | 23297015 | Detail |
| 0.135 | Arthritis, Psoriatic | For both PA and PV, we detected the strongest association with two IL12B single-... | BeFree | 18800148 | Detail |
| 0.303 | psoriasis | Meta-analysis of IL12B polymorphisms (rs3212227, rs6887695) with psoriasis and p... | BeFree | 23297015 | Detail |
| 0.145 | Crohn Disease | Our genetic association study revealed that the polymorphisms of IL12B rs6887695... | BeFree | 25761185 | Detail |
| 0.002 | Psoriasis vulgaris | Association of IL-12B gene rs6887695 polymorphism with hereditary susceptibility... | BeFree | 23564024 | Detail |
| <0.001 | Arthropathy, Erosive | RA patients with the C allele of IL-12B gene rs6887695 was a protective factor t... | BeFree | 25469793 | Detail |
| 0.134 | ulcerative colitis | Our genetic association study revealed that the polymorphisms of IL12B rs6887695... | BeFree | 25761185 | Detail |
| 0.340 | Inflammatory Bowel Diseases | The IL12B SNP rs6887695 modulates the susceptibility and the phenotype of IBD, a... | BeFree | 22479607 | Detail |
| 0.134 | ulcerative colitis | Our analysis revealed an association of the IL12B SNP rs6887695 with susceptibil... | BeFree | 22479607 | Detail |
| 0.145 | Crohn Disease | [Sequence variants in the autophagy gene IRGM and multiple other replicating loc... | GAD | 17554261 | Detail |
| <0.001 | Salivary Gland Pleomorphic Adenoma | We replicated the previously reported association with interleukin 23 receptor a... | BeFree | 18369459 | Detail |
| <0.001 | Salivary Gland Pleomorphic Adenoma | We replicated the previously reported association with interleukin 23 receptor a... | BeFree | 18369459 | Detail |
| 0.303 | psoriasis | We replicated the previously reported association with interleukin 23 receptor a... | BeFree | 18369459 | Detail |
| 0.311 | psoriasis | This study aims to assess whether the association between the non-susceptibility... | BeFree | 24140476 | Detail |
| 0.311 | psoriasis | We replicated the previously reported association with interleukin 23 receptor a... | BeFree | 18369459 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7538427), EPHA4 (rs15... | DisGeNET | Detail |
| Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7538427), EPHA4 (rs15... | DisGeNET | Detail |
| Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7538427), EPHA4 (rs15... | DisGeNET | Detail |
| Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7538427), EPHA4 (rs15... | DisGeNET | Detail |
| Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7538427), EPHA4 (rs15... | DisGeNET | Detail |
| Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7538427), EPHA4 (rs15... | DisGeNET | Detail |
| Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7538427), EPHA4 (rs15... | DisGeNET | Detail |
| Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7538427), EPHA4 (rs15... | DisGeNET | Detail |
| Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7538427), EPHA4 (rs15... | DisGeNET | Detail |
| For both PA and PV, we detected the strongest association with two IL12B single-nucleotide polymorph... | DisGeNET | Detail |
| Meta-analysis of IL12B polymorphisms (rs3212227, rs6887695) with psoriasis and psoriatic arthritis. | DisGeNET | Detail |
| For both PA and PV, we detected the strongest association with two IL12B single-nucleotide polymorph... | DisGeNET | Detail |
| Meta-analysis of IL12B polymorphisms (rs3212227, rs6887695) with psoriasis and psoriatic arthritis. | DisGeNET | Detail |
| Our genetic association study revealed that the polymorphisms of IL12B rs6887695 were associated wit... | DisGeNET | Detail |
| Association of IL-12B gene rs6887695 polymorphism with hereditary susceptibility and clinical charac... | DisGeNET | Detail |
| RA patients with the C allele of IL-12B gene rs6887695 was a protective factor to erosive arthropath... | DisGeNET | Detail |
| Our genetic association study revealed that the polymorphisms of IL12B rs6887695 were associated wit... | DisGeNET | Detail |
| The IL12B SNP rs6887695 modulates the susceptibility and the phenotype of IBD, although the effect o... | DisGeNET | Detail |
| Our analysis revealed an association of the IL12B SNP rs6887695 with susceptibility to IBD (p = 0.03... | DisGeNET | Detail |
| [Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Croh... | DisGeNET | Detail |
| We replicated the previously reported association with interleukin 23 receptor and interleukin 12B (... | DisGeNET | Detail |
| We replicated the previously reported association with interleukin 23 receptor and interleukin 12B (... | DisGeNET | Detail |
| We replicated the previously reported association with interleukin 23 receptor and interleukin 12B (... | DisGeNET | Detail |
| This study aims to assess whether the association between the non-susceptibility allelic variants of... | DisGeNET | Detail |
| We replicated the previously reported association with interleukin 23 receptor and interleukin 12B (... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs6887695 dbSNP
- Genome
- hg19
- Position
- chr5:158,822,645-158,822,645
- 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))
- rs6887695
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.4337
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 7268
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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