chr17:5428576:A>G Detail (hg38) (RPAIN)

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Information

Genome

Assembly	Position
hg19	chr17:5,331,896-5,331,896 View the variant detail on this assembly version.
hg38	chr17:5,428,576-5,428,576

Summary

Links

Type	Database	ID	Link
Gene	MIM	617299	OMIM
	HGNC	28641	HGNC
	Ensembl	ENSG00000129197	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv56872947	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	pneumonia	Four risk single-nucleotide polymorphisms were significantly (p<0.0001) assoc...	BeFree	21737555	Detail
<0.001	pneumonia	Four risk single-nucleotide polymorphisms were significantly (p<0.0001) assoc...	BeFree	21737555	Detail

Annotation

Descrption	Source	Links
Four risk single-nucleotide polymorphisms were significantly (p<0.0001) associated with severe pn...	DisGeNET	Detail
Four risk single-nucleotide polymorphisms were significantly (p<0.0001) associated with severe pn...	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: rs8070740 dbSNP
Genome: hg38
Position: chr17:5,428,576-5,428,576
Variant Type: snv
Reference Allele: A
Alternative Allele: G
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)): rs8070740
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.7841
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 13142
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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