chr7:151012483:G>T Detail (hg38) (NOS3, ATG9B)

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Information

Genome

Assembly	Position
hg19	chr7:150,709,571-150,709,571 View the variant detail on this assembly version.
hg38	chr7:151,012,483-151,012,483

Summary

Links

Type	Database	ID	Link
Gene	MIM	163729	OMIM
	HGNC	7876	HGNC
	Ensembl	ENSG00000164867	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv31481765	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Benign	2016-03-28	criteria provided, single submitter	not specified	germline	Detail
Benign	2021-05-13	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.347	Hypertensive disease	To examine the relationship of three eNOS gene polymorphisms, T-786C (rs2070744)...	BeFree	21968727	Detail
<0.001	kidney failure	Four polymorphisms showed association with ESRD: rs1801275 in the interleukin 4 ...	BeFree	22817530	Detail
<0.001	Kidney Failure, Chronic	Four polymorphisms showed association with ESRD: rs1801275 in the interleukin 4 ...	BeFree	22817530	Detail
0.207	Kidney Failure, Chronic	Four polymorphisms showed association with ESRD: rs1801275 in the interleukin 4 ...	BeFree	22817530	Detail
0.002	kidney failure	Four polymorphisms showed association with ESRD: rs1801275 in the interleukin 4 ...	BeFree	22817530	Detail
<0.001	Pediatric Obesity	However, no study has tested the hypothesis that NOS3 tagSNPs rs3918226, rs39181...	BeFree	24943287	Detail

Annotation

Descrption	Source	Links
NM_000603.5(NOS3):c.3106+11G>T AND not specified	ClinVar	Detail
NM_000603.5(NOS3):c.3106+11G>T AND not provided	ClinVar	Detail
To examine the relationship of three eNOS gene polymorphisms, T-786C (rs2070744), G894T (rs1799983),...	DisGeNET	Detail
Four polymorphisms showed association with ESRD: rs1801275 in the interleukin 4 receptor (IL4R) gene...	DisGeNET	Detail
Four polymorphisms showed association with ESRD: rs1801275 in the interleukin 4 receptor (IL4R) gene...	DisGeNET	Detail
Four polymorphisms showed association with ESRD: rs1801275 in the interleukin 4 receptor (IL4R) gene...	DisGeNET	Detail
Four polymorphisms showed association with ESRD: rs1801275 in the interleukin 4 receptor (IL4R) gene...	DisGeNET	Detail
However, no study has tested the hypothesis that NOS3 tagSNPs rs3918226, rs3918188, rs743506 and rs7...	DisGeNET	Detail

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs7830 dbSNP
Genome: hg38
Position: chr7:151,012,483-151,012,483
Variant Type: snv
Reference Allele: G
Alternative Allele: T
Filtering Status (HGVD): PASS
# of samples (HGVD): 835
Mean of sample read depth (HGVD): 48.54
Standard deviation of sample read depth (HGVD): 20.11
Number of reference allele (HGVD): 966
Number of alternative allele (HGVD): 704
Allele Frequency (HGVD): 0.4215568862275449
Gene Symbol (HGVD): NOS3
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)): rs7830
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.457
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 7658
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16758
East Asian Chromosome Counts (ExAC): 7994
East Asian Allele Counts (ExAC): 3088
East Asian Heterozygous Counts (ExAC): 1934
East Asian Homozygous Counts (ExAC): 577
East Asian Allele Frequency (ExAC): 0.38628971728796596
Chromosome Counts in All Race (ExAC): 110280
Allele Counts in All Race (ExAC): 41675
Heterozygous Counts in All Race (ExAC): 25823
Homozygous Counts in All Race (ExAC): 7926
Allele Frequency in All Race (ExAC): 0.37790170475154156

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