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

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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

Summary

Links

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	tgv5864083	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Benign	2016-03-29	criteria provided, single submitter	not specified	germline	Detail

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

Descrption	Source	Links
NM_004850.5(ROCK2):c.1292C>A (p.Thr431Asn) AND not specified	ClinVar	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
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

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

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: T
Filtering Status (HGVD): PASS
# of samples (HGVD): 1099
Mean of sample read depth (HGVD): 45.33
Standard deviation of sample read depth (HGVD): 20.99
Number of reference allele (HGVD): 1394
Number of alternative allele (HGVD): 804
Allele Frequency (HGVD): 0.36578707916287534
Gene Symbol (HGVD): ROCK2
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)): rs2230774
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.3963
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 6642
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760
East Asian Chromosome Counts (ExAC): 8606
East Asian Allele Counts (ExAC): 3647
East Asian Heterozygous Counts (ExAC): 2101
East Asian Homozygous Counts (ExAC): 773
East Asian Allele Frequency (ExAC): 0.42377411108528934
Chromosome Counts in All Race (ExAC): 119884
Allele Counts in All Race (ExAC): 59720
Heterozygous Counts in All Race (ExAC): 29074
Homozygous Counts in All Race (ExAC): 15323
Allele Frequency in All Race (ExAC): 0.49814820993627174

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