chr1:12252955:T>G Detail (hg19) (TNFRSF1B)

Information

Genome

Assembly Position
hg19 chr1:12,252,955-12,252,955
hg38 chr1:12,192,898-12,192,898 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001066.2:c.587T>G NP_001057.1:p.Met196Arg
Ensemble ENST00000376259.7:c.587T>G ENST00000376259.7:p.Met196Arg
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.137
ToMMo:0.122
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.158

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 191191 OMIM
HGNC 11917 HGNC
Ensembl ENSG00000028137 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv396373 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2021-02-09 no assertion criteria provided Susceptibility to severe coronavirus disease (COVID-19) germline Detail
Uncertain significance 2021-08-07 no assertion criteria provided Susceptibility to severe coronavirus disease (COVID-19) due to high plasma levels of TNF, TNFR, and/or TNFR2 germline Detail
Uncertain significance 2023-07-01 no assertion criteria provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.003 liver carcinoma Seven polymorphisms of caspase 9 (rs2308941)C-->T and DOK2(rs2242241) T-->... BeFree 16109524 Detail
<0.001 liver carcinoma Seven polymorphisms of caspase 9 (rs2308941)C--&gt;T and DOK2(rs2242241) T--&gt;... BeFree 16109524 Detail
0.005 polycystic ovary syndrome Comment: the methionine 196 arginine polymorphism in exon 6 of the TNF receptor ... BeFree 12161545 Detail
0.073 rheumatoid arthritis Influence of FCGR3A-V212F and TNFRSF1B-M196R genotypes in patients with rheumato... BeFree 18565259 Detail
0.003 Degenerative polyarthritis Tumor necrosis factor receptor 2 M196R polymorphism in rheumatoid arthritis and ... BeFree 16871413 Detail
0.002 acne In this case-control study, the relationship between M196R (676 T--&gt;G) varian... BeFree 20556591 Detail
0.002 breast carcinoma Our results suggest that rs1061622 and rs1061624 in TNFRSF1B may affect breast c... BeFree 25010932 Detail
0.073 rheumatoid arthritis Tumor necrosis factor receptor 2 M196R polymorphism in rheumatoid arthritis and ... BeFree 16871413 Detail
<0.001 Ovarian Diseases In conclusion, the M196R (676 T--&gt;G) variant in exon 6 of TNFRSF1B is associa... BeFree 12161545 Detail
<0.001 hyperandrogenism Comment: the methionine 196 arginine polymorphism in exon 6 of the TNF receptor ... BeFree 12161545 Detail
0.004 Acne Vulgaris In this case-control study, the relationship between M196R (676 T--&gt;G) varian... BeFree 20556591 Detail
<0.001 acne TNFR 2 M196R polymorphism and acne vulgaris in Han Chinese: a case-control study... BeFree 20556591 Detail
0.003 Osteoarthritis, Knee We investigate the clinical association of tumor necrosis factor receptor 2 (TNF... BeFree 16871413 Detail
0.073 rheumatoid arthritis Associations between functional TNFR2 196 M/R polymorphisms and susceptibility t... BeFree 24777778 Detail
0.008 hyperandrogenism The opposite behaviors in terms of clinical expressivity detected for CAPN-UCSNP... BeFree 19039234 Detail
0.033 Lupus Erythematosus, Systemic Lack of association between the Met196Arg polymorphism in the TNFR2 gene and aut... BeFree 11169260 Detail
0.009 arthritis To assess the association between the tumour necrosis factor receptor 2 (TNFR2) ... BeFree 15252214 Detail
<0.001 Acne Vulgaris The 196R allele of TNFR2 M196R as well as the 753Gln allele of TLR2 Arg753Gln ar... BeFree 20861605 Detail
<0.001 Autoimmune Diseases Lack of association between the Met196Arg polymorphism in the TNFR2 gene and aut... BeFree 11169260 Detail
<0.001 Testicular Hydrocele Met196Arg genotype frequency of TNFR-II polymorphism was significantly greater i... BeFree 21673044 Detail
0.062 rheumatoid arthritis Influence of FCGR3A-V212F and TNFRSF1B-M196R genotypes in patients with rheumato... BeFree 18565259 Detail
0.121 Lupus Erythematosus, Systemic A polymorphism in high-affinity receptor of TNF (TNFR2) gene, Met196Arg, was rep... BeFree 11169260 Detail
<0.001 paranoid schizophrenia Association of the Met-196-Arg variation of human tumor necrosis factor receptor... BeFree 20842464 Detail
0.004 Malignant neoplasm of breast Our results suggest that rs1061622 and rs1061624 in TNFRSF1B may affect breast c... BeFree 25010932 Detail
0.008 hyperandrogenism Comment: the methionine 196 arginine polymorphism in exon 6 of the TNF receptor ... BeFree 12161545 Detail
<0.001 Infection by Wuchereria bancrofti ET-1 (Ala288Ser) and TNFR-II (Met196Arg) polymorphisms are associated with devel... BeFree 21673044 Detail
0.005 Malignant neoplasm of breast Our results suggest that rs1061622 and rs1061624 in TNFRSF1B may affect breast c... BeFree 25010932 Detail
0.001 breast carcinoma Our results suggest that rs1061622 and rs1061624 in TNFRSF1B may affect breast c... BeFree 25010932 Detail
<0.001 Acne Vulgaris TNFR 2 M196R polymorphism and acne vulgaris in Han Chinese: a case-control study... BeFree 20556591 Detail
0.013 polycystic ovary syndrome Comment: the methionine 196 arginine polymorphism in exon 6 of the TNF receptor ... BeFree 12161545 Detail
<0.001 acne The 196R allele of TNFR2 M196R as well as the 753Gln allele of TLR2 Arg753Gln ar... BeFree 20861605 Detail
0.011 Graft-vs-Host Disease Tumour necrosis factor receptor type II 196M/R genotype correlates with circulat... BeFree 14688526 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001066.3(TNFRSF1B):c.587T>G (p.Met196Arg) AND Susceptibility to severe coronavirus disease (COVID... ClinVar Detail
NM_001066.3(TNFRSF1B):c.587T>G (p.Met196Arg) AND Susceptibility to severe coronavirus disease (COVID... ClinVar Detail
NM_001066.3(TNFRSF1B):c.587T>G (p.Met196Arg) AND Associated with severe COVID-19 disease ClinVar Detail
Seven polymorphisms of caspase 9 (rs2308941)C--&gt;T and DOK2(rs2242241) T--&gt;G, 6 of polymorphism... DisGeNET Detail
Seven polymorphisms of caspase 9 (rs2308941)C--&gt;T and DOK2(rs2242241) T--&gt;G, 6 of polymorphism... DisGeNET Detail
Comment: the methionine 196 arginine polymorphism in exon 6 of the TNF receptor 2 gene (TNFRSF1B) is... DisGeNET Detail
Influence of FCGR3A-V212F and TNFRSF1B-M196R genotypes in patients with rheumatoid arthritis treated... DisGeNET Detail
Tumor necrosis factor receptor 2 M196R polymorphism in rheumatoid arthritis and osteoarthritis: rela... DisGeNET Detail
In this case-control study, the relationship between M196R (676 T--&gt;G) variant in exon 6 of tumor... DisGeNET Detail
Our results suggest that rs1061622 and rs1061624 in TNFRSF1B may affect breast cancer risk, and SNPs... DisGeNET Detail
Tumor necrosis factor receptor 2 M196R polymorphism in rheumatoid arthritis and osteoarthritis: rela... DisGeNET Detail
In conclusion, the M196R (676 T--&gt;G) variant in exon 6 of TNFRSF1B is associated with hyperandrog... DisGeNET Detail
Comment: the methionine 196 arginine polymorphism in exon 6 of the TNF receptor 2 gene (TNFRSF1B) is... DisGeNET Detail
In this case-control study, the relationship between M196R (676 T--&gt;G) variant in exon 6 of tumor... DisGeNET Detail
TNFR 2 M196R polymorphism and acne vulgaris in Han Chinese: a case-control study. DisGeNET Detail
We investigate the clinical association of tumor necrosis factor receptor 2 (TNFR2) M196R polymorphi... DisGeNET Detail
Associations between functional TNFR2 196 M/R polymorphisms and susceptibility to rheumatoid arthrit... DisGeNET Detail
The opposite behaviors in terms of clinical expressivity detected for CAPN-UCSNP44 and TNFR2-M196R r... DisGeNET Detail
Lack of association between the Met196Arg polymorphism in the TNFR2 gene and autoimmune diseases acc... DisGeNET Detail
To assess the association between the tumour necrosis factor receptor 2 (TNFR2) 196 M/R single-nucle... DisGeNET Detail
The 196R allele of TNFR2 M196R as well as the 753Gln allele of TLR2 Arg753Gln are risk factors for a... DisGeNET Detail
Lack of association between the Met196Arg polymorphism in the TNFR2 gene and autoimmune diseases acc... DisGeNET Detail
Met196Arg genotype frequency of TNFR-II polymorphism was significantly greater in hydrocele patients... DisGeNET Detail
Influence of FCGR3A-V212F and TNFRSF1B-M196R genotypes in patients with rheumatoid arthritis treated... DisGeNET Detail
A polymorphism in high-affinity receptor of TNF (TNFR2) gene, Met196Arg, was reported to be associat... DisGeNET Detail
Association of the Met-196-Arg variation of human tumor necrosis factor receptor 2 (TNFR2) with para... DisGeNET Detail
Our results suggest that rs1061622 and rs1061624 in TNFRSF1B may affect breast cancer risk, and SNPs... DisGeNET Detail
Comment: the methionine 196 arginine polymorphism in exon 6 of the TNF receptor 2 gene (TNFRSF1B) is... DisGeNET Detail
ET-1 (Ala288Ser) and TNFR-II (Met196Arg) polymorphisms are associated with development of one or the... DisGeNET Detail
Our results suggest that rs1061622 and rs1061624 in TNFRSF1B may affect breast cancer risk, and SNPs... DisGeNET Detail
Our results suggest that rs1061622 and rs1061624 in TNFRSF1B may affect breast cancer risk, and SNPs... DisGeNET Detail
TNFR 2 M196R polymorphism and acne vulgaris in Han Chinese: a case-control study. DisGeNET Detail
Comment: the methionine 196 arginine polymorphism in exon 6 of the TNF receptor 2 gene (TNFRSF1B) is... DisGeNET Detail
The 196R allele of TNFR2 M196R as well as the 753Gln allele of TLR2 Arg753Gln are risk factors for a... DisGeNET Detail
Tumour necrosis factor receptor type II 196M/R genotype correlates with circulating soluble receptor... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1061622 dbSNP
Genome
hg19
Position
chr1:12,252,955-12,252,955
Variant Type
snv
Reference Allele
T
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1204
Mean of sample read depth (HGVD)
62.26
Standard deviation of sample read depth (HGVD)
29.95
Number of reference allele (HGVD)
2078
Number of alternative allele (HGVD)
330
Allele Frequency (HGVD)
0.13704318936877077
Gene Symbol (HGVD)
TNFRSF1B
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))
rs1061622
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1215
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2037
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8590
East Asian Allele Counts (ExAC)
1353
East Asian Heterozygous Counts (ExAC)
1159
East Asian Homozygous Counts (ExAC)
97
East Asian Allele Frequency (ExAC)
0.15750873108265426
Chromosome Counts in All Race (ExAC)
120014
Allele Counts in All Race (ExAC)
26987
Heterozygous Counts in All Race (ExAC)
20871
Homozygous Counts in All Race (ExAC)
3058
Allele Frequency in All Race (ExAC)
0.22486543236622394
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