chr18:45729946:C>A Detail (hg38) (SLC14A1)

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

Genome

Assembly	Position
hg19	chr18:43,309,911-43,309,911 View the variant detail on this assembly version.
hg38	chr18:45,729,946-45,729,946

HGVS

SLC14A1

Type	Transcript	Protein
RefSeq	NM_001146036.2:c.-21-354C>A
	NM_015865.6:c.-21-354C>A
	NM_001308278.1:c.-164-1069C>A
	NM_001128588.3:c.148-354C>A
	NM_001146037.1:c.148-354C>A
	NM_001308279.1:c.-55-4328C>A
Ensemble	ENST00000321925.9:c.-21-354C>A
	ENST00000402943.6:c.-164-1069C>A
	ENST00000415427.7:c.148-354C>A
	ENST00000436407.7:c.148-354C>A
	ENST00000535474.5:c.-55-4328C>A
	ENST00000586142.5:c.-375C>A
	ENST00000586951.6:c.-21-354C>A
	ENST00000589322.7:c.-55-4328C>A
	ENST00000619403.4:c.-21-354C>A

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

SLC14A1

Type	Database	ID	Link
Gene	MIM	613868	OMIM
	HGNC	10918	HGNC
	Ensembl	ENSG00000141469	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
0.121	Malignant neoplasm of urinary bladder	European genome-wide association study identifies SLC14A1 as a new urinary bladd...	GWASCAT	21750109	Detail
0.005	Bladder Neoplasm	[European genome-wide association study identifies SLC14A1 as a new urinary blad...	GAD	21750109	Detail
0.027	Carcinoma of bladder	These findings suggest that seven bladder cancer risk-associated variants (rs964...	BeFree	24740636	Detail
0.107	Malignant neoplasm of urinary bladder	These findings suggest that seven bladder cancer risk-associated variants (rs964...	BeFree	24740636	Detail

Annotation

Annotations

Descrption	Source	Links
European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibi...	DisGeNET	Detail
[European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptib...	DisGeNET	Detail
These findings suggest that seven bladder cancer risk-associated variants (rs9642880, rs2294008, rs7...	DisGeNET	Detail
These findings suggest that seven bladder cancer risk-associated variants (rs9642880, rs2294008, rs7...	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: rs17674580 dbSNP
Genome: hg38
Position: chr18:45,729,946-45,729,946
Variant Type: snv
Reference Allele: C
Alternative Allele: A

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