chr2:230226508:T>G Detail (hg38) (SP140)

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

Genome

Assembly	Position
hg19	chr2:231,091,223-231,091,223 View the variant detail on this assembly version.
hg38	chr2:230,226,508-230,226,508

HGVS

SP140

Type	Transcript	Protein
RefSeq	NM_001278452.1:c.59+605T>G
	NM_001005176.2:c.59+605T>G
	NM_007237.4:c.59+605T>G
	NM_001278453.1:c.59+605T>G
	NM_001278451.1:c.59+605T>G
Ensemble	ENST00000343805.10:c.59+605T>G
	ENST00000373645.3:c.59+605T>G
	ENST00000392045.8:c.59+605T>G
	ENST00000417495.7:c.59+605T>G
	ENST00000420434.7:c.59+605T>G

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

SP140

Type	Database	ID	Link
Gene	MIM	608602	OMIM
	HGNC	17133	HGNC
	Ensembl	ENSG00000079263	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv190596870	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
0.125	chronic lymphocytic leukemia	Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic le...	GWASCAT	22700719	Detail
0.248	chronic lymphocytic leukemia	[We identified six previously unreported CLL risk loci at 2q13 (rs17483466; P = ...	GAD	18758461	Detail
0.248	chronic lymphocytic leukemia	Genome-wide association study identifies multiple risk loci for chronic lymphocy...	GWASCAT	23770605	Detail
0.125	chronic lymphocytic leukemia	Genome-wide association study identifies multiple risk loci for chronic lymphocy...	GWASCAT	23770605	Detail
0.125	chronic lymphocytic leukemia	A genome-wide association study identifies six susceptibility loci for chronic l...	GWASCAT	18758461	Detail
0.248	chronic lymphocytic leukemia	A genome-wide association study identifies multiple susceptibility loci for chro...	GWASCAT	24292274	Detail
0.125	chronic lymphocytic leukemia	A genome-wide association study identifies multiple susceptibility loci for chro...	GWASCAT	24292274	Detail
0.248	chronic lymphocytic leukemia	Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic le...	GWASCAT	22700719	Detail
0.125	chronic lymphocytic leukemia	[A genome-wide association study identifies six susceptibility loci for chronic ...	GAD	18758461	Detail
0.250	chronic lymphocytic leukemia	We identified six previously unreported CLL risk loci at 2q13 (rs17483466; P = 2...	GWASCAT	18758461	Detail
0.248	chronic lymphocytic leukemia	We identified six previously unreported CLL risk loci at 2q13 (rs17483466; P = 2...	BeFree	18758461	Detail
0.254	chronic lymphocytic leukemia	We identified six previously unreported CLL risk loci at 2q13 (rs17483466; P = 2...	BeFree	18758461	Detail

Annotation

Annotations

Descrption	Source	Links
Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic leukemia.	DisGeNET	Detail
[We identified six previously unreported CLL risk loci at 2q13 (rs17483466; P = 2.36 x 10(-10)), 2q3...	DisGeNET	Detail
Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.	DisGeNET	Detail
Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.	DisGeNET	Detail
A genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemia.	DisGeNET	Detail
A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leuk...	DisGeNET	Detail
A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leuk...	DisGeNET	Detail
Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic leukemia.	DisGeNET	Detail
[A genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemia...	DisGeNET	Detail
We identified six previously unreported CLL risk loci at 2q13 (rs17483466; P = 2.36 x 10(-10)), 2q37...	DisGeNET	Detail
We identified six previously unreported CLL risk loci at 2q13 (rs17483466; P = 2.36 x 10(-10)), 2q37...	DisGeNET	Detail
We identified six previously unreported CLL risk loci at 2q13 (rs17483466; P = 2.36 x 10(-10)), 2q37...	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs13397985 dbSNP
Genome: hg38
Position: chr2:230,226,508-230,226,508
Variant Type: snv
Reference Allele: T
Alternative Allele: G

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