chr5:6629817:G>A Detail (hg38) (NSUN2)

Go to:

Information

Genome

Assembly	Position
hg19	chr5:6,629,930-6,629,930 View the variant detail on this assembly version.
hg38	chr5:6,629,817-6,629,817

Summary

Links

Type	Database	ID	Link
Gene	MIM	610916	OMIM
	HGNC	25994	HGNC
	Ensembl	ENSG00000037474	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv20149212	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: rs518673 dbSNP
Genome: hg38
Position: chr5:6,629,817-6,629,817
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)): rs518673
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.2512
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 4210
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

Genome browser