PSORS1C1 psoriasis susceptibility 1 candidate 1

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
Locus Zoom
Variants
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Information

Symbol: PSORS1C1
Type: protein-coding
Description: psoriasis susceptibility 1 candidate 1
Entrez Gene ID: 170679
Genome: hg19
Position: chr6:31,082,577-31,107,869
Genome: hg38
Position: chr6:31,114,800-31,140,092
MIM: 613525 OMIM
HGNC: HGNC:17202 HGNC
Ensembl: ENSG00000204540 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	10
Likely pathogenic	0	6
Benign	18	120
Likely benign	0	46
not provided	90	0
Uncertain significance	0	102

Ranking

	ClinVar
	0
	0
	60
	204
	8

Frequency

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

Disease area statistics

Locus Zoom

Variants

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Target data	:	MGeND data only
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Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	MGeND				Genome	ClinVar			CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction
Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	Entry	Origin	Type	Annotation	Genome	Entry	Origin	Annotation	CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction

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Target data	:	MGeND data only
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Name	MGeND				Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Search Word

Target data	:	MGeND data only
Category	:
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Filtering	:

Name	MGeND				Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Type	ID
SYNONYM	C6orf16
SYNONYM	SEEK1
MIM	613525 OMIM
HGNC	HGNC:17202 HGNC
Ensembl	ENSG00000204540 Ensembl
AllianceGenome	HGNC:17202

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000259881.10	hg38	chr6	31,114,800	31,140,092	25,293
ENST00000481450.2	hg38	chr6	31,138,357	31,140,038	1,682
ENST00000547221.1	hg38	chr6	31,137,649	31,140,037	2,389
ENST00000259881.10	hg19	chr6	31,082,577	31,107,869	25,293
ENST00000547221.1	hg19	chr6	31,105,426	31,107,814	2,389
ENST00000481450.2	hg19	chr6	31,106,134	31,107,815	1,682

Key	Value
strand	+
start	31,082,607
Gene Symbol	PSORS1C1
Entrez GeneId	170,679
Chr Band	6p21.3
end	31,107,868
chr	chr6

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