chr2:11218994:G>C Detail (hg38) (ROCK2)

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

Genome

Assembly	Position
hg19	chr2:11,359,120-11,359,120 View the variant detail on this assembly version.
hg38	chr2:11,218,994-11,218,994

HGVS

ROCK2

Type	Transcript	Protein
RefSeq	NM_001321643.1:c.1292C>G	NP_001308572.1:p.Thr431Ser
	NM_004850.4:c.1292C>G	NP_004841.2:p.Thr431Ser
Ensemble	ENST00000315872.11:c.1292C>G	ENST00000315872.11:p.Thr431Ser
	ENST00000401753.5:c.563C>G	ENST00000401753.5:p.Thr188Ser
	ENST00000697752.1:c.1292C>G	ENST00000697752.1:p.Thr431Ser

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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Links

ROCK2

Type	Database	ID	Link
Gene	MIM	604002	OMIM
	HGNC	10252	HGNC
	Ensembl	ENSG00000134318	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	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	Chronic Kidney Diseases	The Chi-square test, multivariable logistic regression analysis with adjustment ...	BeFree	19578796	Detail
0.001	Chronic Kidney Diseases	The Chi-square test, multivariable logistic regression analysis with adjustment ...	BeFree	19578796	Detail
<0.001	Chronic Kidney Diseases	The Chi-square test, multivariable logistic regression analysis with adjustment ...	BeFree	19578796	Detail
<0.001	breast carcinoma	Association between the Thr431Asn polymorphism of the ROCK2 gene and risk of dev...	BeFree	20939434	Detail
0.001	Neoplasm Metastasis	Association between the Thr431Asn polymorphism of the ROCK2 gene and risk of dev...	BeFree	20939434	Detail
0.003	Malignant neoplasm of breast	Association between the Thr431Asn polymorphism of the ROCK2 gene and risk of dev...	BeFree	20939434	Detail

Annotation

Annotations

Descrption	Source	Links
The Chi-square test, multivariable logistic regression analysis with adjustment for covariates, and ...	DisGeNET	Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for covariates, and ...	DisGeNET	Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for covariates, and ...	DisGeNET	Detail
Association between the Thr431Asn polymorphism of the ROCK2 gene and risk of developing metastases o...	DisGeNET	Detail
Association between the Thr431Asn polymorphism of the ROCK2 gene and risk of developing metastases o...	DisGeNET	Detail
Association between the Thr431Asn polymorphism of the ROCK2 gene and risk of developing metastases o...	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs2230774 dbSNP
Genome: hg38
Position: chr2:11,218,994-11,218,994
Variant Type: snv
Reference Allele: G
Alternative Allele: C

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