chrX:12883443:G>A Detail (hg38) (TLR7)

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Information

Genome

Assembly	Position
hg19	chrX:12,901,562-12,901,562 View the variant detail on this assembly version.
hg38	chrX:12,883,443-12,883,443

Type	Transcript	Protein
RefSeq	NM_016562.3:c.4-2069G>A
Ensemble	ENST00000380659.4:c.4-2069G>A

Summary

Links

Type	Database	ID	Link
Gene	MIM	300365	OMIM
	HGNC	15631	HGNC
	Ensembl	ENSG00000196664	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv66409808	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
0.016	HIV Infections	TLR7 rs179012 and TLR2 597C/T reduced set-point; the latter modified by time sin...	BeFree	24325963	Detail
0.010	HIV Infections	TLR7 rs179012 and TLR2 597C/T reduced set-point; the latter modified by time sin...	BeFree	24325963	Detail

Annotation

Descrption	Source	Links
TLR7 rs179012 and TLR2 597C/T reduced set-point; the latter modified by time since HIV-1 acquisition...	DisGeNET	Detail
TLR7 rs179012 and TLR2 597C/T reduced set-point; the latter modified by time since HIV-1 acquisition...	DisGeNET	Detail

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs179012 dbSNP
Genome: hg38
Position: chrX:12,883,443-12,883,443
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)): rs179012
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.0909
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 1168
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 12843

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