chr1:154422067:T>C Detail (hg19) (IL6R)

Information

Genome

Assembly Position
hg19 chr1:154,422,067-154,422,067
hg38 chr1:154,449,591-154,449,591 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_181359.2:c.997-320T>C
NM_000565.3:c.997-320T>C
Ensemble ENST00000344086.8:c.997-320T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.481
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 147880 OMIM
HGNC 6019 HGNC
Ensembl ENSG00000160712 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv3296653 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2024-01-29 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Chronic Kidney Diseases The χ(2) test revealed that rs4845625 (T→C) of IL6R, rs4773144 (A→G) of COL4A1, ... BeFree 25524550 Detail
<0.001 Chronic Kidney Diseases Multivariable logistic regression analysis with adjustment for age, sex, body ma... BeFree 25524550 Detail
<0.001 Chronic Kidney Diseases Multivariable logistic regression analysis with adjustment for age, sex, body ma... BeFree 25524550 Detail
<0.001 Dyslipidemias Multivariable logistic regression analysis with adjustment for age, sex, body ma... BeFree 25524550 Detail
<0.001 Dyslipidemias Multivariable logistic regression analysis with adjustment for age, sex, body ma... BeFree 25524550 Detail
<0.001 Dyslipidemias Multivariable logistic regression analysis with adjustment for age, sex, body ma... BeFree 25524550 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000565.4(IL6R):c.997-320T>C AND not provided ClinVar Detail
The χ(2) test revealed that rs4845625 (T→C) of IL6R, rs4773144 (A→G) of COL4A1, rs9319428 (G→A) of F... DisGeNET Detail
Multivariable logistic regression analysis with adjustment for age, sex, body mass index, and the pr... DisGeNET Detail
Multivariable logistic regression analysis with adjustment for age, sex, body mass index, and the pr... DisGeNET Detail
Multivariable logistic regression analysis with adjustment for age, sex, body mass index, and the pr... DisGeNET Detail
Multivariable logistic regression analysis with adjustment for age, sex, body mass index, and the pr... DisGeNET Detail
Multivariable logistic regression analysis with adjustment for age, sex, body mass index, and the pr... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs4845625 dbSNP
Genome
hg19
Position
chr1:154,422,067-154,422,067
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))
rs4845625
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4813
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8066
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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