chr5:6643734:G>A Detail (hg38) (SRD5A1)

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Information

Genome

Assembly	Position
hg19	chr5:6,643,847-6,643,847 View the variant detail on this assembly version.
hg38	chr5:6,643,734-6,643,734

Summary

Links

Type	Database	ID	Link
Gene	MIM	184753	OMIM
	HGNC	11284	HGNC
	Ensembl	ENSG00000145545	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv20149775	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	Metastatic Prostate Carcinoma	We studied the polymorphisms rs518673 and rs166050 in SRD5A1, and rs12470143, rs...	BeFree	26169017	Detail
<0.001	Metastatic Prostate Carcinoma	We studied the polymorphisms rs518673 and rs166050 in SRD5A1, and rs12470143, rs...	BeFree	26169017	Detail

Annotation

Descrption	Source	Links
We studied the polymorphisms rs518673 and rs166050 in SRD5A1, and rs12470143, rs523349, rs676033 and...	DisGeNET	Detail
We studied the polymorphisms rs518673 and rs166050 in SRD5A1, and rs12470143, rs523349, rs676033 and...	DisGeNET	Detail

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs166050 dbSNP
Genome: hg38
Position: chr5:6,643,734-6,643,734
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)): rs166050
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.8918
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 14947
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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