chr7:99784473:C>T Detail (hg38) (CYP3A4, LOC110366354)

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Information

Genome

Assembly	Position
hg19	chr7:99,382,096-99,382,096 View the variant detail on this assembly version.
hg38	chr7:99,784,473-99,784,473

[No Data.]

Summary

Links

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Benign	2002-06-01	no assertion criteria provided	CYP3A4 PROMOTER POLYMORPHISM	germline	Detail
Benign	2015-05-18	no assertion criteria provided	Cyp3a4-v	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.007	Malignant neoplasm of ovary	Three of the 10 SNPs showed evidence of an association with ovarian cancer at P&...	BeFree	19127255	Detail
0.003	Malignant neoplasm of ovary	Three of the 10 SNPs showed evidence of an association with ovarian cancer at P&...	BeFree	19127255	Detail
0.002	ovarian carcinoma	Three of the 10 SNPs showed evidence of an association with ovarian cancer at P&...	BeFree	19127255	Detail
<0.001	ovarian carcinoma	Three of the 10 SNPs showed evidence of an association with ovarian cancer at P&...	BeFree	19127255	Detail
0.018	Hypertensive disease	The CYP3A5 genotype was related with blood pressure in the general population, b...	BeFree	20617557	Detail
0.007	Malignant neoplasm of ovary	CYP3A4 encodes a key enzyme in oestrogen metabolism and our finding between rs27...	BeFree	19127255	Detail
<0.001	ovarian carcinoma	CYP3A4 encodes a key enzyme in oestrogen metabolism and our finding between rs27...	BeFree	19127255	Detail
0.003	Carcinogenesis	CYP3A4 encodes a key enzyme in oestrogen metabolism and our finding between rs27...	BeFree	19127255	Detail
0.003	Hypertensive disease	The CYP3A5 genotype was related with blood pressure in the general population, b...	BeFree	20617557	Detail
0.008	Hypertensive disease	The CYP3A5 genotype was related with blood pressure in the general population, b...	BeFree	20617557	Detail

Annotation

Descrption	Source	Links
NM_017460.5(CYP3A4):c.-392G>A AND CYP3A4 PROMOTER POLYMORPHISM	ClinVar	Detail
NM_017460.5(CYP3A4):c.-392G>A AND Cyp3a4-v	ClinVar	Detail
Three of the 10 SNPs showed evidence of an association with ovarian cancer at P< or =0.10 in a lo...	DisGeNET	Detail
Three of the 10 SNPs showed evidence of an association with ovarian cancer at P< or =0.10 in a lo...	DisGeNET	Detail
Three of the 10 SNPs showed evidence of an association with ovarian cancer at P< or =0.10 in a lo...	DisGeNET	Detail
Three of the 10 SNPs showed evidence of an association with ovarian cancer at P< or =0.10 in a lo...	DisGeNET	Detail
The CYP3A5 genotype was related with blood pressure in the general population, but the effect on the...	DisGeNET	Detail
CYP3A4 encodes a key enzyme in oestrogen metabolism and our finding between rs2740574 and risk of ov...	DisGeNET	Detail
CYP3A4 encodes a key enzyme in oestrogen metabolism and our finding between rs2740574 and risk of ov...	DisGeNET	Detail
CYP3A4 encodes a key enzyme in oestrogen metabolism and our finding between rs2740574 and risk of ov...	DisGeNET	Detail
The CYP3A5 genotype was related with blood pressure in the general population, but the effect on the...	DisGeNET	Detail
The CYP3A5 genotype was related with blood pressure in the general population, but the effect on the...	DisGeNET	Detail

Gene: -
dbSNP: rs2740574 dbSNP
Genome: hg38
Position: chr7:99,784,473-99,784,473
Variant Type: snv
Reference Allele: C
Alternative Allele: T
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)): rs2740574
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 1
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16758
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16758

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