chr7:22726602:A>G Detail (hg38) (IL6, IL6-AS1)

Information

Genome

Assembly Position
hg19 chr7:22,766,221-22,766,221 View the variant detail on this assembly version.
hg38 chr7:22,726,602-22,726,602

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000404625.5:c.-85+344A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:1.000
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 147620 OMIM
HGNC 6018 HGNC
Ensembl ENSG00000136244 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv28608982 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2002-03-01 no assertion criteria provided INTERLEUKIN 6 POLYMORPHISM germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.015 leprosy Significant associations (P < .05) were observed for 8 polymorphisms (rs18008... BeFree 21917900 Detail
0.003 leprosy Significant associations (P < .05) were observed for 8 polymorphisms (rs18008... BeFree 21917900 Detail
<0.001 leprosy Significant associations (P &lt; .05) were observed for 8 polymorphisms (rs18008... BeFree 21917900 Detail
<0.001 leprosy Significant associations (P &lt; .05) were observed for 8 polymorphisms (rs18008... BeFree 21917900 Detail
0.421 Diabetes Mellitus, Non-Insulin-Dependent Interleukin-6 (IL-6)-597 A/G (rs1800797) & -174 G/C (rs1800795) gene polymorphis... BeFree 25222779 Detail
0.005 Malignant tumor of colon The most significant finding (nominal P = 0.0004; false discovery rate q = 0.037... BeFree 21129206 Detail
0.007 Malignant tumor of colon The most significant finding (nominal P = 0.0004; false discovery rate q = 0.037... BeFree 21129206 Detail
<0.001 hyperglycemia Possession of the IL-6 rs1800797 GG genotype by the LTA and TNF-alpha risk genot... BeFree 20080841 Detail
<0.001 Obesity, Abdominal Possession of the IL-6 rs1800797 GG genotype by the LTA and TNF-alpha risk genot... BeFree 20080841 Detail
0.006 colon carcinoma The most significant finding (nominal P = 0.0004; false discovery rate q = 0.037... BeFree 21129206 Detail
0.007 colon carcinoma The most significant finding (nominal P = 0.0004; false discovery rate q = 0.037... BeFree 21129206 Detail
<0.001 Metabolic syndrome X Possession of the IL-6 rs1800797 GG genotype by the LTA and TNF-alpha risk genot... BeFree 20080841 Detail
<0.001 Obesity, Abdominal Possession of the IL-6 rs1800797 GG genotype by the LTA and TNF-alpha risk genot... BeFree 20080841 Detail
Annotation

Annotations

DescrptionSourceLinks
NR_131935.1(IL6-AS1):n.157T>C AND INTERLEUKIN 6 POLYMORPHISM ClinVar Detail
Significant associations (P &lt; .05) were observed for 8 polymorphisms (rs1800871, rs1800872, and r... DisGeNET Detail
Significant associations (P &lt; .05) were observed for 8 polymorphisms (rs1800871, rs1800872, and r... DisGeNET Detail
Significant associations (P &lt; .05) were observed for 8 polymorphisms (rs1800871, rs1800872, and r... DisGeNET Detail
Significant associations (P &lt; .05) were observed for 8 polymorphisms (rs1800871, rs1800872, and r... DisGeNET Detail
Interleukin-6 (IL-6)-597 A/G (rs1800797) & -174 G/C (rs1800795) gene polymorphisms in type 2 diabete... DisGeNET Detail
The most significant finding (nominal P = 0.0004; false discovery rate q = 0.037) was a combined gen... DisGeNET Detail
The most significant finding (nominal P = 0.0004; false discovery rate q = 0.037) was a combined gen... DisGeNET Detail
Possession of the IL-6 rs1800797 GG genotype by the LTA and TNF-alpha risk genotype carriers further... DisGeNET Detail
Possession of the IL-6 rs1800797 GG genotype by the LTA and TNF-alpha risk genotype carriers further... DisGeNET Detail
The most significant finding (nominal P = 0.0004; false discovery rate q = 0.037) was a combined gen... DisGeNET Detail
The most significant finding (nominal P = 0.0004; false discovery rate q = 0.037) was a combined gen... DisGeNET Detail
Possession of the IL-6 rs1800797 GG genotype by the LTA and TNF-alpha risk genotype carriers further... DisGeNET Detail
Possession of the IL-6 rs1800797 GG genotype by the LTA and TNF-alpha risk genotype carriers further... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1800797 dbSNP
Genome
hg38
Position
chr7:22,726,602-22,726,602
Variant Type
snv
Reference Allele
A
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))
rs1800797
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.9999
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16757
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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