chr2:112838252:C>G Detail (hg38) (IL1B)

Information

Genome

Assembly Position
hg19 chr2:113,595,829-113,595,829 View the variant detail on this assembly version.
hg38 chr2:112,838,252-112,838,252

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.343
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance association
Review star
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
association 2020-02-12 no assertion criteria provided antisynthetase syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.001 colorectal cancer A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
<0.001 Drug usage The polymorphisms IL10 C-592A (rs1800872), C-rs3024505-T, IL1b C-3737T (rs484830... BeFree 24194923 Detail
<0.001 ovarian carcinoma A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.006 colorectal carcinoma A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.004 ovarian carcinoma A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.010 Malignant neoplasm of ovary A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
<0.001 Malignant neoplasm of ovary A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.013 colorectal cancer The polymorphisms IL10 C-592A (rs1800872), C-rs3024505-T, IL1b C-3737T (rs484830... BeFree 24194923 Detail
0.037 Malignant neoplasm of stomach In the Chinese subgroup, nominally significant associations were shown between (... BeFree 21649724 Detail
0.031 stomach carcinoma In the Chinese subgroup, nominally significant associations were shown between (... BeFree 21649724 Detail
<0.001 ovarian carcinoma A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.002 colorectal carcinoma A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.005 Helicobacter pylori infection In the Chinese subgroup, nominally significant associations were shown between (... BeFree 21649724 Detail
0.004 colorectal carcinoma A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.017 colorectal cancer A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.003 colorectal carcinoma A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.003 Malignant neoplasm of ovary A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.005 colorectal cancer A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.065 Malignant neoplasm of stomach In the Chinese subgroup, nominally significant associations were shown between (... BeFree 21649724 Detail
0.001 Malignant neoplasm of ovary A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.007 stomach carcinoma A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.006 colorectal carcinoma The polymorphisms IL10 C-592A (rs1800872), C-rs3024505-T, IL1b C-3737T (rs484830... BeFree 24194923 Detail
0.001 ovarian carcinoma A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.028 stomach carcinoma In the Chinese subgroup, nominally significant associations were shown between (... BeFree 21649724 Detail
0.006 colorectal carcinoma A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.027 Helicobacter pylori infection In the Chinese subgroup, nominally significant associations were shown between (... BeFree 21649724 Detail
0.008 colorectal cancer A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.013 colorectal cancer A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
Annotation

Annotations

DescrptionSourceLinks
NC_000002.12:g.112838252C>G AND Antisynthetase syndrome ClinVar Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
The polymorphisms IL10 C-592A (rs1800872), C-rs3024505-T, IL1b C-3737T (rs4848306), G-1464C (rs11436... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
The polymorphisms IL10 C-592A (rs1800872), C-rs3024505-T, IL1b C-3737T (rs4848306), G-1464C (rs11436... DisGeNET Detail
In the Chinese subgroup, nominally significant associations were shown between (i) EBBR2+1963G (rs18... DisGeNET Detail
In the Chinese subgroup, nominally significant associations were shown between (i) EBBR2+1963G (rs18... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
In the Chinese subgroup, nominally significant associations were shown between (i) EBBR2+1963G (rs18... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
In the Chinese subgroup, nominally significant associations were shown between (i) EBBR2+1963G (rs18... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
The polymorphisms IL10 C-592A (rs1800872), C-rs3024505-T, IL1b C-3737T (rs4848306), G-1464C (rs11436... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
In the Chinese subgroup, nominally significant associations were shown between (i) EBBR2+1963G (rs18... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
In the Chinese subgroup, nominally significant associations were shown between (i) EBBR2+1963G (rs18... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
Gene
-
dbSNP
rs1143623 dbSNP
Genome
hg38
Position
chr2:112,838,252-112,838,252
Variant Type
snv
Reference Allele
C
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))
rs1143623
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3426
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5742
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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