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

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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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

FDFT1

Type	Transcript	Protein
RefSeq	NM_004462.4:c.702+739A>C
	NM_001287756.1:c.573+739A>C
	NM_001287750.1:c.879+739A>C
	NM_001287751.1:c.447+739A>C
	NM_001287747.1:c.510+739A>C
	NM_001287749.1:c.510+739A>C
	NM_001287743.1:c.702+739A>C
	NM_001287748.1:c.510+739A>C
Ensemble	ENST00000220584.9:c.702+739A>C
	ENST00000443614.6:c.573+739A>C
	ENST00000525900.5:c.681+739A>C
	ENST00000525954.5:c.879+739A>C
	ENST00000528643.5:c.447+739A>C
	ENST00000528812.5:c.510+739A>C
	ENST00000530337.6:c.702+739A>C
	ENST00000530664.5:c.510+739A>C
	ENST00000615631.4:c.702+739A>C
	ENST00000622850.3:c.510+739A>C

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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Links

FDFT1

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
	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	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

Descrption	Source	Links
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: C

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