chr7:82450035:A>C Detail (hg19) (PCLO)

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Information

Genome

Assembly	Position
hg19	chr7:82,450,035-82,450,035
hg38	chr7:82,820,719-82,820,719 View the variant detail on this assembly version.

Summary

Links

Type	Database	ID	Link
Gene	MIM	604918	OMIM
	HGNC	13406	HGNC
	Ensembl	ENSG00000186472	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv29908273	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
0.130	major depressive disorder	NA	GAD		Detail
0.130	major depressive disorder	[These results provide genetic basis for gender differences in MDD and will serv...	GAD	21621269	Detail
0.130	major depressive disorder	Genome-wide association analysis of gender differences in major depressive disor...	GWASCAT	21621269	Detail

Annotation

Descrption	Source	Links
NA	DisGeNET	Detail
[These results provide genetic basis for gender differences in MDD and will serve as a resource for ...	DisGeNET	Detail
Genome-wide association analysis of gender differences in major depressive disorder in the Netherlan...	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: rs2715148 dbSNP
Genome: hg19
Position: chr7:82,450,035-82,450,035
Variant Type: snv
Reference Allele: A
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)): rs2715148
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.8817
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 14775
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16758

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