chr7:45908915:A>G Detail (hg19) (CCDC201)

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Information

Genome

Assembly	Position
hg19	chr7:45,908,915-45,908,915
hg38	chr7:45,869,316-45,869,316 View the variant detail on this assembly version.

Type	Transcript	Protein
RefSeq
Ensemble	ENST00000636578.2:c.19-2822T>C

Summary

Links

Type	Database	ID	Link
Gene	MIM
	HGNC	54081	HGNC
	Ensembl	ENSG00000283247	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv29143319	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	Malignant neoplasm of ovary	When evaluated individually, three SNPs in the IGFBPs (rs10228265, rs4988515 and...	BeFree	19858071	Detail
0.001	ovarian carcinoma	When evaluated individually, three SNPs in the IGFBPs (rs10228265, rs4988515 and...	BeFree	19858071	Detail

Annotation

Descrption	Source	Links
When evaluated individually, three SNPs in the IGFBPs (rs10228265, rs4988515 and rs2270628) were ass...	DisGeNET	Detail
When evaluated individually, three SNPs in the IGFBPs (rs10228265, rs4988515 and rs2270628) were ass...	DisGeNET	Detail

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs10228265 dbSNP
Genome: hg19
Position: chr7:45,908,915-45,908,915
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)): rs10228265
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.3134
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 5252
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16758

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