chr6:31576050:G>A Detail (hg38) (TNF)

Information

Genome

Assembly Position
hg19 chr6:31,543,827-31,543,827 View the variant detail on this assembly version.
hg38 chr6:31,576,050-31,576,050

HGVS

Type Transcript Protein
RefSeq NM_000594.3:c.186+123G>A
Ensemble ENST00000449264.3:c.186+123G>A
ENST00000699334.1:c.186+123G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.215
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 191160 OMIM
HGNC 11892 HGNC
Ensembl ENSG00000232810 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv24782849 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
0.012 Malignant neoplasm of ovary We examined associations between six TNF single nucleotide polymorphisms (SNPs) ... BeFree 18196539 Detail
0.012 ovarian carcinoma We examined associations between six TNF single nucleotide polymorphisms (SNPs) ... BeFree 18196539 Detail
0.009 typhoid fever [A TNF region haplotype offers protection from typhoid fever in Vietnamese patie... GAD 17503085 Detail
0.031 Diabetes Mellitus, Non-Insulin-Dependent Six common genetic variants (rs2229094, rs1041981, rs1800630, rs1800629, rs36152... BeFree 20177654 Detail
0.022 Metabolic syndrome X Six common genetic variants (rs2229094, rs1041981, rs1800630, rs1800629, rs36152... BeFree 20177654 Detail
0.009 Metabolic syndrome X Six common genetic variants (rs2229094, rs1041981, rs1800630, rs1800629, rs36152... BeFree 20177654 Detail
Annotation

Annotations

DescrptionSourceLinks
We examined associations between six TNF single nucleotide polymorphisms (SNPs) (rs1799964, rs180063... DisGeNET Detail
We examined associations between six TNF single nucleotide polymorphisms (SNPs) (rs1799964, rs180063... DisGeNET Detail
[A TNF region haplotype offers protection from typhoid fever in Vietnamese patients.] DisGeNET Detail
Six common genetic variants (rs2229094, rs1041981, rs1800630, rs1800629, rs361525, and rs1800610) in... DisGeNET Detail
Six common genetic variants (rs2229094, rs1041981, rs1800630, rs1800629, rs361525, and rs1800610) in... DisGeNET Detail
Six common genetic variants (rs2229094, rs1041981, rs1800630, rs1800629, rs361525, and rs1800610) in... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1800610 dbSNP
Genome
hg38
Position
chr6:31,576,050-31,576,050
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs1800610
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2147
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3598
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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