chr17:82736023:C>T Detail (hg38) (FN3K)

Information

Genome

Assembly Position
hg19 chr17:80,693,899-80,693,899 View the variant detail on this assembly version.
hg38 chr17:82,736,023-82,736,023

HGVS

Type Transcript Protein
RefSeq NM_022158.3:c.141+246C>T
Ensemble ENST00000300784.8:c.141+246C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.515
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 608425 OMIM
HGNC 24822 HGNC
Ensembl ENSG00000167363 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv58976609 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
<0.001 Endothelial dysfunction The aim of our study was to evaluate an association of FN3K (rs1056534, rs384840... BeFree 24908234 Detail
Annotation

Annotations

DescrptionSourceLinks
The aim of our study was to evaluate an association of FN3K (rs1056534, rs3848403) and GLO1 rs4746 p... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3848403 dbSNP
Genome
hg38
Position
chr17:82,736,023-82,736,023
Variant Type
snv
Reference Allele
C
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))
rs3848403
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5147
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8626
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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