chr14:81203689:G>T Detail (hg38) (GTF2A1)

Information

Genome

Assembly Position
hg19 chr14:81,670,033-81,670,033 View the variant detail on this assembly version.
hg38 chr14:81,203,689-81,203,689

HGVS

Type Transcript Protein
RefSeq NM_001278940.1:c.220+211C>A
NM_201595.2:c.220+211C>A
NM_015859.3:c.337+211C>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.467
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 600520 OMIM
HGNC 4646 HGNC
Ensembl ENSG00000165417 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv51483362 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
0.007 Ischemic Cerebrovascular Accident Our study suggests that IL-6 rs1800796 and IL-1B rs1864169 polymorphisms are ass... BeFree 24782217 Detail
0.004 Ischemic Cerebrovascular Accident Our study suggests that IL-6 rs1800796 and IL-1B rs1864169 polymorphisms are ass... BeFree 24782217 Detail
0.009 Ischemic stroke Our study suggests that IL-6 rs1800796 and IL-1B rs1864169 polymorphisms are ass... BeFree 24782217 Detail
0.011 Diabetes We found that IL-1B rs1864169 and IL-6 rs1800796 polymorphisms may interact with... BeFree 24782217 Detail
0.289 obesity We found that IL-1B rs1864169 and IL-6 rs1800796 polymorphisms may interact with... BeFree 24782217 Detail
0.038 diabetes mellitus We found that IL-1B rs1864169 and IL-6 rs1800796 polymorphisms may interact with... BeFree 24782217 Detail
0.010 Ischemic stroke Our study suggests that IL-6 rs1800796 and IL-1B rs1864169 polymorphisms are ass... BeFree 24782217 Detail
Annotation

Annotations

DescrptionSourceLinks
Our study suggests that IL-6 rs1800796 and IL-1B rs1864169 polymorphisms are associated with ischemi... DisGeNET Detail
Our study suggests that IL-6 rs1800796 and IL-1B rs1864169 polymorphisms are associated with ischemi... DisGeNET Detail
Our study suggests that IL-6 rs1800796 and IL-1B rs1864169 polymorphisms are associated with ischemi... DisGeNET Detail
We found that IL-1B rs1864169 and IL-6 rs1800796 polymorphisms may interact with diabetes, hypertens... DisGeNET Detail
We found that IL-1B rs1864169 and IL-6 rs1800796 polymorphisms may interact with diabetes, hypertens... DisGeNET Detail
We found that IL-1B rs1864169 and IL-6 rs1800796 polymorphisms may interact with diabetes, hypertens... DisGeNET Detail
Our study suggests that IL-6 rs1800796 and IL-1B rs1864169 polymorphisms are associated with ischemi... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1864169 dbSNP
Genome
hg38
Position
chr14:81,203,689-81,203,689
Variant Type
snv
Reference Allele
G
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))
rs1864169
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4672
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7830
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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