chr6:32823948:G>C Detail (hg19) (PSMB9)

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

Genome

Assembly	Position
hg19	chr6:32,823,948-32,823,948
hg38	chr6:32,856,171-32,856,171 View the variant detail on this assembly version.

HGVS

PSMB9

Type	Transcript	Protein
RefSeq	NM_002800.4:c.94G>C	NP_002791.1:p.Val32Leu
Ensemble	ENST00000374859.3:c.94G>C	ENST00000374859.3:p.Val32Leu
	ENST00000395330.5:c.25G>C	ENST00000395330.5:p.Val9Leu

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

PSMB9

Type	Database	ID	Link
Gene	MIM	177045	OMIM
	HGNC	9546	HGNC
	Ensembl	ENSG00000240065	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
0.007	colorectal cancer	Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently...	BeFree	18619730	Detail
<0.001	colorectal carcinoma	Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently...	BeFree	18619730	Detail
<0.001	colorectal carcinoma	Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently...	BeFree	18619730	Detail
0.003	colorectal cancer	Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently...	BeFree	18619730	Detail
0.003	colorectal cancer	Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently...	BeFree	18619730	Detail
<0.001	colorectal carcinoma	Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently...	BeFree	18619730	Detail
0.002	colorectal carcinoma	Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently...	BeFree	18619730	Detail
0.082	colorectal carcinoma	Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently...	BeFree	18619730	Detail
0.003	colorectal cancer	Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently...	BeFree	18619730	Detail
<0.001	colorectal carcinoma	Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently...	BeFree	18619730	Detail
0.003	colorectal cancer	Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently...	BeFree	18619730	Detail
0.003	colorectal cancer	Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently...	BeFree	18619730	Detail
0.160	colorectal cancer	Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently...	BeFree	18619730	Detail
<0.001	colorectal carcinoma	Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently...	BeFree	18619730	Detail
0.003	colorectal cancer	Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently...	BeFree	18619730	Detail
<0.001	colorectal carcinoma	Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently...	BeFree	18619730	Detail
0.003	colorectal cancer	Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently...	BeFree	18619730	Detail
0.003	colorectal cancer	Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently...	BeFree	18619730	Detail
<0.001	colorectal carcinoma	Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently...	BeFree	18619730	Detail
<0.001	colorectal carcinoma	Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently...	BeFree	18619730	Detail

Annotation

Annotations

Descrption	Source	Links
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col...	DisGeNET	Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col...	DisGeNET	Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col...	DisGeNET	Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col...	DisGeNET	Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col...	DisGeNET	Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col...	DisGeNET	Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col...	DisGeNET	Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col...	DisGeNET	Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col...	DisGeNET	Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col...	DisGeNET	Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col...	DisGeNET	Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col...	DisGeNET	Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col...	DisGeNET	Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col...	DisGeNET	Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col...	DisGeNET	Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col...	DisGeNET	Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col...	DisGeNET	Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col...	DisGeNET	Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col...	DisGeNET	Detail
Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently associated with col...	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: rs241419 dbSNP
Genome: hg19
Position: chr6:32,823,948-32,823,948
Variant Type: snv
Reference Allele: G
Alternative Allele: C

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