chr1:12207208:A>G Detail (hg38) (TNFRSF1B)

Information

Genome

Assembly Position
hg19 chr1:12,267,265-12,267,265 View the variant detail on this assembly version.
hg38 chr1:12,207,208-12,207,208

HGVS

Type Transcript Protein
RefSeq NM_001066.2:c.*188A>G
Ensemble ENST00000376259.7:c.*188A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.476
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 191191 OMIM
HGNC 11917 HGNC
Ensembl ENSG00000028137 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv396953 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
0.002 breast carcinoma Our results suggest that rs1061622 and rs1061624 in TNFRSF1B may affect breast c... BeFree 25010932 Detail
0.004 Malignant neoplasm of breast Our results suggest that rs1061622 and rs1061624 in TNFRSF1B may affect breast c... BeFree 25010932 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 Rectal Carcinoma Additionally, in rs1061624 of TNFRSF1B gene, AG genotype (OR=0.566; 95% CI= 0.36... BeFree 24762198 Detail
Annotation

Annotations

DescrptionSourceLinks
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
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
Additionally, in rs1061624 of TNFRSF1B gene, AG genotype (OR=0.566; 95% CI= 0.362, 0.885) and AG/GG ... 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
rs1061624 dbSNP
Genome
hg38
Position
chr1:12,207,208-12,207,208
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))
rs1061624
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.476
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7977
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser