chr5:33955673:T>C Detail (hg19) (SLC45A2)

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Information

Genome

Assembly	Position
hg19	chr5:33,955,673-33,955,673
hg38	chr5:33,955,568-33,955,568 View the variant detail on this assembly version.

Summary

Links

Type	Database	ID	Link
Gene	MIM	606202	OMIM
	HGNC	16472	HGNC
	Ensembl	ENSG00000164175	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv20741343	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
0.005	SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder)	Three single nucleotide polymorphisms (rs28777, rs35391, and rs16891982) in the ...	BeFree	19710684	Detail
<0.001	SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder)	Three single nucleotide polymorphisms (rs28777, rs35391, and rs16891982) in the ...	BeFree	19710684	Detail

Annotation

Descrption	Source	Links
Three single nucleotide polymorphisms (rs28777, rs35391, and rs16891982) in the MATP gene (SLC45A2) ...	DisGeNET	Detail
Three single nucleotide polymorphisms (rs28777, rs35391, and rs16891982) in the MATP gene (SLC45A2) ...	DisGeNET	Detail

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs35391 dbSNP
Genome: hg19
Position: chr5:33,955,673-33,955,673
Variant Type: snv
Reference Allele: T
Alternative Allele: C
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)): rs35391
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.3819
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 6400
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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