chr7:151005693:C>A Detail (hg38) (NOS3)

Information

Genome

Assembly Position
hg19 chr7:150,702,781-150,702,781 View the variant detail on this assembly version.
hg38 chr7:151,005,693-151,005,693

HGVS

Type Transcript Protein
RefSeq NM_000603.4:c.1753-734C>A
Ensemble ENST00000297494.8:c.1753-734C>A
ENST00000461406.5:c.1135-734C>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.277
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 tgv31481161 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 Pediatric Obesity However, no study has tested the hypothesis that NOS3 tagSNPs rs3918226, rs39181... BeFree 24943287 Detail
Annotation

Annotations

DescrptionSourceLinks
However, no study has tested the hypothesis that NOS3 tagSNPs rs3918226, rs3918188, rs743506 and rs7... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3918188 dbSNP
Genome
hg38
Position
chr7:151,005,693-151,005,693
Variant Type
snv
Reference Allele
C
Alternative Allele
A
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))
rs3918188
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2774
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4649
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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