chr2:219259814:TGTG> Detail (hg19) (SLC11A1)

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Information

Genome

Assembly	Position
hg19	chr2:219,259,814-219,259,817
hg38	chr2:218,395,091-218,395,094

Type	Transcript	Protein
RefSeq	NM_000578.3:c.56_59delTGTG
Ensemble	ENST00000233202.11:c.56_59delTGTG

Summary

Links

Type	Database	ID	Link
Gene	MIM	600266	OMIM
	HGNC	10907	HGNC
	Ensembl	ENSG00000018280	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv10529878	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	rheumatoid arthritis	We analysed four NRAMP1 gene polymorphisms including 5' promoter (GT)(n) (rs3444...	BeFree	19055603	Detail

Annotation

Descrption	Source	Links
We analysed four NRAMP1 gene polymorphisms including 5' promoter (GT)(n) (rs34448891), INT4 (469 + 1...	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: rs17235416 dbSNP
Genome: hg19
Position: chr2:219,259,814-219,259,817
Variant Type: snv
Reference Allele: TGTG
Alternative Allele: -
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)): rs17235416
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.0981
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 1644
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16756

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