chr8:11684463:A>G Detail (hg19) (FDFT1)

Information

Genome

Assembly Position
hg19 chr8:11,684,463-11,684,463
hg38 chr8:11,826,954-11,826,954 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001287749.1:c.510+739A>G
NM_001287751.1:c.447+739A>G
NM_001287750.1:c.879+739A>G
Summary

MGeND

Clinical significance not provided
Variant entry
GWAS entry 1
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.221
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 184420 OMIM
HGNC 3629 HGNC
Ensembl ENSG00000079459 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv32128967 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided Other specified congenital deformities of hip not provided MGS000063
(TMGS000130) 		Yu Mori
Yu Mori		 Tohoku University
Tohoku University
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Nonalcoholic Steatohepatitis Herein, we aimed to study the association between hepatic fat accumulation as as... BeFree 23275357 Detail
<0.001 Nonalcoholic Steatohepatitis Herein, we aimed to study the association between hepatic fat accumulation as as... BeFree 23275357 Detail
<0.001 Nonalcoholic Steatohepatitis Herein, we aimed to study the association between hepatic fat accumulation as as... BeFree 23275357 Detail
0.002 Nonalcoholic Steatohepatitis Herein, we aimed to study the association between hepatic fat accumulation as as... BeFree 23275357 Detail
0.003 Non-alcoholic Fatty Liver Disease [In multivariate models adjusted for age, body mass index, diabetes, waist/hip r... GAD 20708005 Detail
0.003 Non-alcoholic Fatty Liver Disease Recently, a polymorphism of single nucleotide polymorphism SNP rs2645424 of farn... BeFree 23870067 Detail
0.031 Hepatitis C, Chronic The SNPs rs738409478 and rs2645424 were determined by real-time PCR in 478 patie... BeFree 23870067 Detail
0.003 Non-alcoholic Fatty Liver Disease In multivariate models adjusted for age, body mass index, diabetes, waist/hip ra... BeFree 20708005 Detail
Annotation

Annotations

DescrptionSourceLinks
Herein, we aimed to study the association between hepatic fat accumulation as assessed by magnetic r... DisGeNET Detail
Herein, we aimed to study the association between hepatic fat accumulation as assessed by magnetic r... DisGeNET Detail
Herein, we aimed to study the association between hepatic fat accumulation as assessed by magnetic r... DisGeNET Detail
Herein, we aimed to study the association between hepatic fat accumulation as assessed by magnetic r... DisGeNET Detail
[In multivariate models adjusted for age, body mass index, diabetes, waist/hip ratios, and levels of... DisGeNET Detail
Recently, a polymorphism of single nucleotide polymorphism SNP rs2645424 of farnesyl diphosphate far... DisGeNET Detail
The SNPs rs738409478 and rs2645424 were determined by real-time PCR in 478 patients with CHC (m/f: 3... DisGeNET Detail
In multivariate models adjusted for age, body mass index, diabetes, waist/hip ratios, and levels of ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2645424 dbSNP
Genome
hg19
Position
chr8:11,684,463-11,684,463
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))
rs2645424
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.221
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3704
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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