chr4:71752617:A>C Detail (hg38) (GC)

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Information

Genome

Assembly	Position
hg19	chr4:72,618,334-72,618,334 View the variant detail on this assembly version.
hg38	chr4:71,752,617-71,752,617

Summary

Links

Type	Database	ID	Link
Gene	MIM	139200	OMIM
	HGNC	4187	HGNC
	Ensembl	ENSG00000145321	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv17430255	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Benign	1992-06-01	no assertion criteria provided	GC1/GC2 POLYMORPHISM	germline	Detail
Benign	2023-04-20	no assertion criteria provided		germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.001	melanoma	In our hospital-based case-control study including 305 melanoma patients and 370...	BeFree	22576141	Detail
<0.001	melanoma	In our hospital-based case-control study including 305 melanoma patients and 370...	BeFree	22576141	Detail
0.004	melanoma	In our hospital-based case-control study including 305 melanoma patients and 370...	BeFree	22576141	Detail
0.018	hepatitis B	We conclude that the VDR rs2228570 and DBP rs7041 polymorphisms may contribute t...	BeFree	25541958	Detail
0.003	Malignant neoplasm of breast	For example, breast cancer risk was associated with the GC rs7041 TT genotype (a...	BeFree	21693626	Detail
<0.001	breast carcinoma	For example, breast cancer risk was associated with the GC rs7041 TT genotype (a...	BeFree	21693626	Detail

Annotation

Descrption	Source	Links
NM_000583.4(GC):c.1296T>G (p.Asp432Glu) AND GC1/GC2 POLYMORPHISM	ClinVar	Detail
NM_000583.4(GC):c.1296T>G (p.Asp432Glu) AND Periodontitis	ClinVar	Detail
In our hospital-based case-control study including 305 melanoma patients and 370 healthy controls si...	DisGeNET	Detail
In our hospital-based case-control study including 305 melanoma patients and 370 healthy controls si...	DisGeNET	Detail
In our hospital-based case-control study including 305 melanoma patients and 370 healthy controls si...	DisGeNET	Detail
We conclude that the VDR rs2228570 and DBP rs7041 polymorphisms may contribute to increased suscepti...	DisGeNET	Detail
For example, breast cancer risk was associated with the GC rs7041 TT genotype (age-adjusted odds rat...	DisGeNET	Detail
For example, breast cancer risk was associated with the GC rs7041 TT genotype (age-adjusted odds rat...	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: rs7041 dbSNP
Genome: hg38
Position: chr4:71,752,617-71,752,617
Variant Type: snv
Reference Allele: A
Alternative Allele: C
Filtering Status (HGVD): PASS
# of samples (HGVD): 1209
Mean of sample read depth (HGVD): 74.77
Standard deviation of sample read depth (HGVD): 36.16
Number of reference allele (HGVD): 1791
Number of alternative allele (HGVD): 627
Allele Frequency (HGVD): 0.25930521091811415
Gene Symbol (HGVD): GC
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)): rs7041
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.239
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 4006
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760
East Asian Chromosome Counts (ExAC): 8648
East Asian Allele Counts (ExAC): 2525
East Asian Heterozygous Counts (ExAC): 1823
East Asian Homozygous Counts (ExAC): 351
East Asian Allele Frequency (ExAC): 0.2919750231267345
Chromosome Counts in All Race (ExAC): 121342
Allele Counts in All Race (ExAC): 62601
Heterozygous Counts in All Race (ExAC): 27829
Homozygous Counts in All Race (ExAC): 17386
Allele Frequency in All Race (ExAC): 0.5159054573025004

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