chr4:6301295:C>A Detail (hg38) (WFS1)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr4:6,303,022-6,303,022 View the variant detail on this assembly version.
hg38	chr4:6,301,295-6,301,295

HGVS

WFS1

Type	Transcript	Protein
RefSeq	NM_001145853.1:c.1500C>A	NP_001139325.1:p.Asn500Lys
	NM_006005.3:c.1500C>A	NP_005996.2:p.Asn500Lys
Ensemble	ENST00000226760.5:c.1500C>A	ENST00000226760.5:p.Asn500Lys
	ENST00000503569.5:c.1500C>A	ENST00000503569.5:p.Asn500Lys
	ENST00000506362.2:c.1251C>A	ENST00000506362.2:p.Asn417Lys
	ENST00000673991.1:c.1536C>A	ENST00000673991.1:p.Asn512Lys
	ENST00000682275.1:c.1536C>A	ENST00000682275.1:p.Asn512Lys
	ENST00000684087.1:c.1500C>A	ENST00000684087.1:p.Asn500Lys

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

WFS1

Type	Database	ID	Link
Gene	MIM	606201	OMIM
	HGNC	12762	HGNC
	Ensembl	ENSG00000109501	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
0.336	Diabetes Mellitus, Non-Insulin-Dependent	Seven of the 29 single nucleotide polymorphisms (SNPs) examined were found to be...	BeFree	23144361	Detail
0.452	Diabetes Mellitus, Non-Insulin-Dependent	Seven of the 29 single nucleotide polymorphisms (SNPs) examined were found to be...	BeFree	23144361	Detail
0.614	Diabetes Mellitus, Non-Insulin-Dependent	Seven of the 29 single nucleotide polymorphisms (SNPs) examined were found to be...	BeFree	23144361	Detail
0.327	Diabetes Mellitus, Non-Insulin-Dependent	Twelve type 2 diabetes susceptibility loci identified through large-scale associ...	GWASCAT	20581827	Detail
0.327	Diabetes Mellitus, Non-Insulin-Dependent	Seven of the 29 single nucleotide polymorphisms (SNPs) examined were found to be...	BeFree	23144361	Detail

Annotation

Annotations

Descrption	Source	Links
Seven of the 29 single nucleotide polymorphisms (SNPs) examined were found to be associated with T2D...	DisGeNET	Detail
Seven of the 29 single nucleotide polymorphisms (SNPs) examined were found to be associated with T2D...	DisGeNET	Detail
Seven of the 29 single nucleotide polymorphisms (SNPs) examined were found to be associated with T2D...	DisGeNET	Detail
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.	DisGeNET	Detail
Seven of the 29 single nucleotide polymorphisms (SNPs) examined were found to be associated with T2D...	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs1801214 dbSNP
Genome: hg38
Position: chr4:6,301,295-6,301,295
Variant Type: snv
Reference Allele: C
Alternative Allele: A

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