chr1:154432420:T>C Detail (hg19) (IL6R)

Information

Genome

Assembly Position
hg19 chr1:154,432,420-154,432,420
hg38 chr1:154,459,944-154,459,944 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000565.3:c.1161-5190T>C
NM_181359.2:c.1067-5190T>C
Ensemble ENST00000368485.8:c.1161-5190T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.101
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 tgv3296960 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
0.248 rheumatoid arthritis Interleukin-6-receptor polymorphisms rs12083537, rs2228145, and rs4329505 as pre... BeFree 24978393 Detail
Annotation

Annotations

DescrptionSourceLinks
Interleukin-6-receptor polymorphisms rs12083537, rs2228145, and rs4329505 as predictors of response ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs4329505 dbSNP
Genome
hg19
Position
chr1:154,432,420-154,432,420
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))
rs4329505
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1007
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1688
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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