chr10:123351324:T>C Detail (hg19) (FGFR2)

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Information

Genome

Assembly	Position
hg19	chr10:123,351,324-123,351,324
hg38	chr10:121,591,810-121,591,810 View the variant detail on this assembly version.

Summary

Links

Type	Database	ID	Link
Gene	MIM	176943	OMIM
	HGNC	3689	HGNC
	Ensembl	ENSG00000066468	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv40910849	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
0.080	breast carcinoma	In this study, we evaluated the associations among FGFR2 SNPs rs2981582, rs24209...	BeFree	23225170	Detail
0.360	Malignant neoplasm of breast	In this study, we evaluated the associations among FGFR2 SNPs rs2981582, rs24209...	BeFree	23225170	Detail

Annotation

Descrption	Source	Links
In this study, we evaluated the associations among FGFR2 SNPs rs2981582, rs2420946, and rs1219648; a...	DisGeNET	Detail
In this study, we evaluated the associations among FGFR2 SNPs rs2981582, rs2420946, and rs1219648; a...	DisGeNET	Detail

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs2420946 dbSNP
Genome: hg19
Position: chr10:123,351,324-123,351,324
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)): rs2420946
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.6374
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 10682
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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