chr18:12835977:T>C Detail (hg38) (PTPN2)

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Information

Genome

Assembly	Position
hg19	chr18:12,835,976-12,835,976 View the variant detail on this assembly version.
hg38	chr18:12,835,977-12,835,977

Summary

Links

Type	Database	ID	Link
Gene	MIM	176887	OMIM
	HGNC	9650	HGNC
	Ensembl	ENSG00000175354	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv59301175	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
0.371	Diabetes Mellitus, Insulin-Dependent	Of the 1692 DAISY children genotyped for VDR rs1544410, VDR rs2228570, VDR rs115...	BeFree	22960018	Detail
0.020	Diabetes Mellitus, Insulin-Dependent	Of the 1692 DAISY children genotyped for VDR rs1544410, VDR rs2228570, VDR rs115...	BeFree	22960018	Detail

Annotation

Descrption	Source	Links
Of the 1692 DAISY children genotyped for VDR rs1544410, VDR rs2228570, VDR rs11568820, PTPN2 rs18932...	DisGeNET	Detail
Of the 1692 DAISY children genotyped for VDR rs1544410, VDR rs2228570, VDR rs11568820, PTPN2 rs18932...	DisGeNET	Detail

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs478582 dbSNP
Genome: hg38
Position: chr18:12,835,977-12,835,977
Variant Type: snv
Reference Allele: T
Alternative Allele: C
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)): rs478582
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.1543
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 2586
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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