chr7:151005344:A>T Detail (hg38) (NOS3)

Information

Genome

Assembly Position
hg19 chr7:150,702,432-150,702,432 View the variant detail on this assembly version.
hg38 chr7:151,005,344-151,005,344

HGVS

Type Transcript Protein
RefSeq NM_000603.4:c.1753-1083A>T
Ensemble ENST00000297494.8:c.1753-1083A>T
ENST00000461406.5:c.1135-1083A>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.095
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
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 tgv31481155 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 Leukemia, Lymphocytic, Acute, L1 There was evidence that the minor alleles of NOS3 rs3918186 (OR = 2.16; 95% CI: ... BeFree 24367687 Detail
Annotation

Annotations

DescrptionSourceLinks
There was evidence that the minor alleles of NOS3 rs3918186 (OR = 2.16; 95% CI: 1.51-3.15) and SLC19... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3918186 dbSNP
Genome
hg38
Position
chr7:151,005,344-151,005,344
Variant Type
snv
Reference Allele
A
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))
rs3918186
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0951
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1593
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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