chr16:50722970:A>G Detail (hg38) (NOD2)

Go to:

Information

Genome

Assembly	Position
hg19	chr16:50,756,881-50,756,881 View the variant detail on this assembly version.
hg38	chr16:50,722,970-50,722,970

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	tgv55473262	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Benign	2021-06-18	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.560	Crohn Disease	The NOD2 single nucleotide polymorphisms rs2066843 and rs2076756 are novel and c...	BeFree	21209938	Detail
0.002	pathologic fistula	In CD patients homozygous for these novel NOD2 variants, genotype-phenotype anal...	BeFree	21209938	Detail
0.234	ulcerative colitis	Genomic DNA from 2700 Caucasians including 812 patients with Crohn's disease (CD...	BeFree	21209938	Detail
0.397	Inflammatory Bowel Diseases	The aims were to analyze two novel NOD2 variants (rs2066843 and rs2076756) in a ...	BeFree	21209938	Detail
0.560	Crohn Disease	A genome-wide association study on a southern European population identifies a n...	GWASCAT	22936669	Detail
0.560	Crohn Disease	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's diseas...	GWASCAT	21102463	Detail
0.560	Crohn Disease	In all, the 16 replicated and newly discovered loci, in addition to the three co...	GWASCAT	22412388	Detail
0.560	Crohn Disease	Genome-wide association study identifies new susceptibility loci for Crohn disea...	GWASCAT	17435756	Detail
0.397	Inflammatory Bowel Diseases	A genome-wide association study identifies IL23R as an inflammatory bowel diseas...	GWASCAT	17068223	Detail
0.560	Crohn Disease	Among the 116,161 single-nucleotide polymorphisms tested, an association with th...	GWASCAT	17684544	Detail

Annotation

Descrption	Source	Links
NM_001370466.1(NOD2):c.2717+265A>G AND not provided	ClinVar	Detail
The NOD2 single nucleotide polymorphisms rs2066843 and rs2076756 are novel and common Crohn's diseas...	DisGeNET	Detail
In CD patients homozygous for these novel NOD2 variants, genotype-phenotype analysis revealed higher...	DisGeNET	Detail
Genomic DNA from 2700 Caucasians including 812 patients with Crohn's disease (CD), 442 patients with...	DisGeNET	Detail
The aims were to analyze two novel NOD2 variants (rs2066843 and rs2076756) in a large cohort of pati...	DisGeNET	Detail
A genome-wide association study on a southern European population identifies a new Crohn's disease s...	DisGeNET	Detail
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loc...	DisGeNET	Detail
In all, the 16 replicated and newly discovered loci, in addition to the three coding NOD2 variants, ...	DisGeNET	Detail
Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates au...	DisGeNET	Detail
A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.	DisGeNET	Detail
Among the 116,161 single-nucleotide polymorphisms tested, an association with the known CD susceptib...	DisGeNET	Detail

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs2076756 dbSNP
Genome: hg38
Position: chr16:50,722,970-50,722,970
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)): rs2076756
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.0004
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 7
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

Genome browser