chr3:12622336:C>G Detail (hg38) (RAF1)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr3:12,663,835-12,663,835 View the variant detail on this assembly version.
hg38	chr3:12,622,336-12,622,336

HGVS

RAF1

Type	Transcript	Protein
RefSeq	NM_002880.3:c.-26-3589G>C
Ensemble	ENST00000251849.9:c.-26-3589G>C
	ENST00000442415.7:c.-26-3589G>C
	ENST00000685437.1:c.-27+567G>C
	ENST00000685653.1:c.-26-3589G>C
	ENST00000687923.1:c.-26-3589G>C
	ENST00000688543.1:c.-26-3589G>C
	ENST00000689226.1:c.-26-3589G>C
	ENST00000689389.1:c.-26-3589G>C
	ENST00000690397.1:c.-26-3589G>C
	ENST00000690460.1:c.-26-3589G>C
	ENST00000691899.1:c.-26-3589G>C
	ENST00000692093.1:c.-26-3589G>C
	ENST00000693312.1:c.-18-10274G>C

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:0.045
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

RAF1

Type	Database	ID	Link
Gene	MIM	164760	OMIM
	HGNC	9829	HGNC
	Ensembl	ENSG00000132155	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv11505158	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 tumor of colon	DUSP2 rs1724120 [hazard rate ratio (HRR) = 0.72, 95%CI = 0.54, 0.96; AA versus G...	BeFree	23027623	Detail
0.002	colon carcinoma	DUSP2 rs1724120 [hazard rate ratio (HRR) = 0.72, 95%CI = 0.54, 0.96; AA versus G...	BeFree	23027623	Detail
<0.001	Malignant tumor of colon	DUSP2 rs1724120 [hazard rate ratio (HRR) = 0.72, 95%CI = 0.54, 0.96; AA versus G...	BeFree	23027623	Detail
0.002	Malignant tumor of colon	DUSP2 rs1724120 [hazard rate ratio (HRR) = 0.72, 95%CI = 0.54, 0.96; AA versus G...	BeFree	23027623	Detail
<0.001	Malignant tumor of colon	DUSP2 rs1724120 [hazard rate ratio (HRR) = 0.72, 95%CI = 0.54, 0.96; AA versus G...	BeFree	23027623	Detail
<0.001	colon carcinoma	DUSP2 rs1724120 [hazard rate ratio (HRR) = 0.72, 95%CI = 0.54, 0.96; AA versus G...	BeFree	23027623	Detail
<0.001	Rectal Carcinoma	DUSP2 rs1724120 [hazard rate ratio (HRR) = 0.72, 95%CI = 0.54, 0.96; AA versus G...	BeFree	23027623	Detail
<0.001	Rectal Carcinoma	DUSP2 rs1724120 [hazard rate ratio (HRR) = 0.72, 95%CI = 0.54, 0.96; AA versus G...	BeFree	23027623	Detail
<0.001	Rectal Carcinoma	DUSP2 rs1724120 [hazard rate ratio (HRR) = 0.72, 95%CI = 0.54, 0.96; AA versus G...	BeFree	23027623	Detail
<0.001	Rectal Carcinoma	DUSP2 rs1724120 [hazard rate ratio (HRR) = 0.72, 95%CI = 0.54, 0.96; AA versus G...	BeFree	23027623	Detail
<0.001	colon carcinoma	DUSP2 rs1724120 [hazard rate ratio (HRR) = 0.72, 95%CI = 0.54, 0.96; AA versus G...	BeFree	23027623	Detail
0.001	colon carcinoma	DUSP2 rs1724120 [hazard rate ratio (HRR) = 0.72, 95%CI = 0.54, 0.96; AA versus G...	BeFree	23027623	Detail
<0.001	Rectal Carcinoma	DUSP2 rs1724120 [hazard rate ratio (HRR) = 0.72, 95%CI = 0.54, 0.96; AA versus G...	BeFree	23027623	Detail
<0.001	Malignant tumor of colon	DUSP2 rs1724120 [hazard rate ratio (HRR) = 0.72, 95%CI = 0.54, 0.96; AA versus G...	BeFree	23027623	Detail
<0.001	colon carcinoma	DUSP2 rs1724120 [hazard rate ratio (HRR) = 0.72, 95%CI = 0.54, 0.96; AA versus G...	BeFree	23027623	Detail

Annotation

Annotations

Descrption	Source	Links
DUSP2 rs1724120 [hazard rate ratio (HRR) = 0.72, 95%CI = 0.54, 0.96; AA versus GG/GA), MAP3K10 rs112...	DisGeNET	Detail
DUSP2 rs1724120 [hazard rate ratio (HRR) = 0.72, 95%CI = 0.54, 0.96; AA versus GG/GA), MAP3K10 rs112...	DisGeNET	Detail
DUSP2 rs1724120 [hazard rate ratio (HRR) = 0.72, 95%CI = 0.54, 0.96; AA versus GG/GA), MAP3K10 rs112...	DisGeNET	Detail
DUSP2 rs1724120 [hazard rate ratio (HRR) = 0.72, 95%CI = 0.54, 0.96; AA versus GG/GA), MAP3K10 rs112...	DisGeNET	Detail
DUSP2 rs1724120 [hazard rate ratio (HRR) = 0.72, 95%CI = 0.54, 0.96; AA versus GG/GA), MAP3K10 rs112...	DisGeNET	Detail
DUSP2 rs1724120 [hazard rate ratio (HRR) = 0.72, 95%CI = 0.54, 0.96; AA versus GG/GA), MAP3K10 rs112...	DisGeNET	Detail
DUSP2 rs1724120 [hazard rate ratio (HRR) = 0.72, 95%CI = 0.54, 0.96; AA versus GG/GA), MAP3K10 rs112...	DisGeNET	Detail
DUSP2 rs1724120 [hazard rate ratio (HRR) = 0.72, 95%CI = 0.54, 0.96; AA versus GG/GA), MAP3K10 rs112...	DisGeNET	Detail
DUSP2 rs1724120 [hazard rate ratio (HRR) = 0.72, 95%CI = 0.54, 0.96; AA versus GG/GA), MAP3K10 rs112...	DisGeNET	Detail
DUSP2 rs1724120 [hazard rate ratio (HRR) = 0.72, 95%CI = 0.54, 0.96; AA versus GG/GA), MAP3K10 rs112...	DisGeNET	Detail
DUSP2 rs1724120 [hazard rate ratio (HRR) = 0.72, 95%CI = 0.54, 0.96; AA versus GG/GA), MAP3K10 rs112...	DisGeNET	Detail
DUSP2 rs1724120 [hazard rate ratio (HRR) = 0.72, 95%CI = 0.54, 0.96; AA versus GG/GA), MAP3K10 rs112...	DisGeNET	Detail
DUSP2 rs1724120 [hazard rate ratio (HRR) = 0.72, 95%CI = 0.54, 0.96; AA versus GG/GA), MAP3K10 rs112...	DisGeNET	Detail
DUSP2 rs1724120 [hazard rate ratio (HRR) = 0.72, 95%CI = 0.54, 0.96; AA versus GG/GA), MAP3K10 rs112...	DisGeNET	Detail
DUSP2 rs1724120 [hazard rate ratio (HRR) = 0.72, 95%CI = 0.54, 0.96; AA versus GG/GA), MAP3K10 rs112...	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs11923427 dbSNP
Genome: hg38
Position: chr3:12,622,336-12,622,336
Variant Type: snv
Reference Allele: C
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)): rs11923427
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.0455
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 762
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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