chr16:50713793:C>T Detail (hg38) (NOD2)

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Information

Genome

Assembly	Position
hg19	chr16:50,747,704-50,747,704 View the variant detail on this assembly version.
hg38	chr16:50,713,793-50,713,793

Summary

Links

Type	Database	ID	Link
Gene	MIM	605956	OMIM
	HGNC	5331	HGNC
	Ensembl	ENSG00000167207	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv55472867	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
0.560	Crohn Disease	We observed the association between Crohn's disease and NOD2 (rs17313265, 0.28 i...	BeFree	25259511	Detail
0.371	Crohn Disease	We observed the association between Crohn's disease and NOD2 (rs17313265, 0.28 i...	BeFree	25259511	Detail

Annotation

Descrption	Source	Links
We observed the association between Crohn's disease and NOD2 (rs17313265, 0.28 in CD, 0.19 in contro...	DisGeNET	Detail
We observed the association between Crohn's disease and NOD2 (rs17313265, 0.28 in CD, 0.19 in contro...	DisGeNET	Detail

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs17313265 dbSNP
Genome: hg38
Position: chr16:50,713,793-50,713,793
Variant Type: snv
Reference Allele: C
Alternative Allele: T
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)): rs17313265
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.0515
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 863
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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