chr2:113535438:C>T Detail (hg19) (IL1A)

Information

Genome

Assembly Position
hg19 chr2:113,535,438-113,535,438
hg38 chr2:112,777,861-112,777,861 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000575.4:c.615+126G>A
Ensemble ENST00000263339.4:c.615+126G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.105
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 147760 OMIM
HGNC 5991 HGNC
Ensembl ENSG00000115008 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv8208611 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
0.004 osteoporosis Our results of the association of IL-1α gene single nucleotide polymorphisms (SN... BeFree 22868802 Detail
Annotation

Annotations

DescrptionSourceLinks
Our results of the association of IL-1α gene single nucleotide polymorphisms (SNPs) rs2071375 (+1253... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2071375 dbSNP
Genome
hg19
Position
chr2:113,535,438-113,535,438
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs2071375
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1053
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1765
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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