chr1:87328839:G>A Detail (hg19) (SELENOF)

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Information

Genome

Assembly	Position
hg19	chr1:87,328,839-87,328,839
hg38	chr1:86,863,156-86,863,156 View the variant detail on this assembly version.

Summary

Links

Type	Database	ID	Link
Gene	MIM	606254	OMIM
	HGNC	17705	HGNC
	Ensembl	ENSG00000183291	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv2263340	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	Prostatic Diseases	Three SNPs, namely GPx1 rs1050450, SEL15 rs5845 and CAT rs1001179, were signific...	BeFree	23363810	Detail
<0.001	Prostatic Diseases	Three SNPs, namely GPx1 rs1050450, SEL15 rs5845 and CAT rs1001179, were signific...	BeFree	23363810	Detail

Annotation

Descrption	Source	Links
Three SNPs, namely GPx1 rs1050450, SEL15 rs5845 and CAT rs1001179, were significantly associated wit...	DisGeNET	Detail
Three SNPs, namely GPx1 rs1050450, SEL15 rs5845 and CAT rs1001179, were significantly associated wit...	DisGeNET	Detail

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

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs5845 dbSNP
Genome: hg19
Position: chr1:87,328,839-87,328,839
Variant Type: snv
Reference Allele: G
Alternative Allele: A
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): rs5845
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.0462
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 774
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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