chr1:154415777:A>G Detail (hg19) (IL6R)

Information

Genome

Assembly Position
hg19 chr1:154,415,777-154,415,777
hg38 chr1:154,443,301-154,443,301 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_181359.2:c.950-4824A>G
NM_000565.3:c.950-4824A>G
Ensemble ENST00000344086.8:c.950-4824A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.389
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
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 tgv3296443 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 arteriosclerosis The AAT haplotype of the IL-6R gene (rs4845617 G/A, rs4845623 A/G, and rs2229238... BeFree 21835044 Detail
<0.001 atherosclerosis The AAT haplotype of the IL-6R gene (rs4845617 G/A, rs4845623 A/G, and rs2229238... BeFree 21835044 Detail
<0.001 Dyslipidemias The AAT haplotype of the IL-6R gene (rs4845617 G/A, rs4845623 A/G, and rs2229238... BeFree 21835044 Detail
0.005 atherosclerosis The AAT haplotype of the IL-6R gene (rs4845617 G/A, rs4845623 A/G, and rs2229238... BeFree 21835044 Detail
0.120 arteriosclerosis The AAT haplotype of the IL-6R gene (rs4845617 G/A, rs4845623 A/G, and rs2229238... BeFree 21835044 Detail
Annotation

Annotations

DescrptionSourceLinks
The AAT haplotype of the IL-6R gene (rs4845617 G/A, rs4845623 A/G, and rs2229238 C/T) may play an im... DisGeNET Detail
The AAT haplotype of the IL-6R gene (rs4845617 G/A, rs4845623 A/G, and rs2229238 C/T) may play an im... DisGeNET Detail
The AAT haplotype of the IL-6R gene (rs4845617 G/A, rs4845623 A/G, and rs2229238 C/T) may play an im... DisGeNET Detail
The AAT haplotype of the IL-6R gene (rs4845617 G/A, rs4845623 A/G, and rs2229238 C/T) may play an im... DisGeNET Detail
The AAT haplotype of the IL-6R gene (rs4845617 G/A, rs4845623 A/G, and rs2229238 C/T) may play an im... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs4845623 dbSNP
Genome
hg19
Position
chr1:154,415,777-154,415,777
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))
rs4845623
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3891
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6521
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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