chr1:162085685:G>T Detail (hg19) (NOS1AP)

Information

Genome

Assembly Position
hg19 chr1:162,085,685-162,085,685
hg38 chr1:162,115,895-162,115,895 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001164757.1:c.106-38510G>T
NM_014697.2:c.106-38510G>T
Ensemble ENST00000530878.5:c.106-38510G>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.308
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 605551 OMIM
HGNC 16859 HGNC
Ensembl ENSG00000198929 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv3543641 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 Superficial ulcer Seventeen patients (age = 56 ± 20 years; 12 men; 5 pacemakers; 12 defibrillators... BeFree 22019493 Detail
<0.001 cardiac event Three NOS1AP marker SNPs (rs4657139, rs16847548, and rs10494366) were genotyped ... BeFree 20538168 Detail
0.006 diabetes mellitus We have independently replicated the association between rs10494366 in NOS1AP an... BeFree 19943157 Detail
<0.001 Superficial ulcer Seventeen patients (age = 56 ± 20 years; 12 men; 5 pacemakers; 12 defibrillators... BeFree 22019493 Detail
<0.001 Superficial ulcer Seventeen patients (age = 56 ± 20 years; 12 men; 5 pacemakers; 12 defibrillators... BeFree 22019493 Detail
<0.001 Superficial ulcer Seventeen patients (age = 56 ± 20 years; 12 men; 5 pacemakers; 12 defibrillators... BeFree 22019493 Detail
<0.001 Vascular occlusion Seventeen patients (age = 56 ± 20 years; 12 men; 5 pacemakers; 12 defibrillators... BeFree 22019493 Detail
0.001 Diabetes We have independently replicated the association between rs10494366 in NOS1AP an... BeFree 19943157 Detail
Annotation

Annotations

DescrptionSourceLinks
Seventeen patients (age = 56 ± 20 years; 12 men; 5 pacemakers; 12 defibrillators) undergoing lead ex... DisGeNET Detail
Three NOS1AP marker SNPs (rs4657139, rs16847548, and rs10494366) were genotyped to assess the effect... DisGeNET Detail
We have independently replicated the association between rs10494366 in NOS1AP and incident diabetes ... DisGeNET Detail
Seventeen patients (age = 56 ± 20 years; 12 men; 5 pacemakers; 12 defibrillators) undergoing lead ex... DisGeNET Detail
Seventeen patients (age = 56 ± 20 years; 12 men; 5 pacemakers; 12 defibrillators) undergoing lead ex... DisGeNET Detail
Seventeen patients (age = 56 ± 20 years; 12 men; 5 pacemakers; 12 defibrillators) undergoing lead ex... DisGeNET Detail
Seventeen patients (age = 56 ± 20 years; 12 men; 5 pacemakers; 12 defibrillators) undergoing lead ex... DisGeNET Detail
We have independently replicated the association between rs10494366 in NOS1AP and incident diabetes ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs10494366 dbSNP
Genome
hg19
Position
chr1:162,085,685-162,085,685
Variant Type
snv
Reference Allele
G
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))
rs10494366
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3081
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5163
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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