chr4:102501347:C>G Detail (hg38) (NFKB1)

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Information

Genome

Assembly	Position
hg19	chr4:103,422,504-103,422,504 View the variant detail on this assembly version.
hg38	chr4:102,501,347-102,501,347

Summary

Links

Type	Database	ID	Link
Gene	MIM	164011	OMIM
	HGNC	7794	HGNC
	Ensembl	ENSG00000109320	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv18079770	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	Helicobacter pylori infection	We investigated the influence of NFKB1 polymorphisms, -94 ins/del (rs28362491) a...	BeFree	22614238	Detail

Annotation

Descrption	Source	Links
We investigated the influence of NFKB1 polymorphisms, -94 ins/del (rs28362491) and -449 C>G (rs72...	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: rs72696119 dbSNP
Genome: hg38
Position: chr4:102,501,347-102,501,347
Variant Type: snv
Reference Allele: C
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)): rs72696119
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.3615
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 6059
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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