chr1:162030688:C>G Detail (hg19)

Information

Genome

Assembly Position
hg19 chr1:162,030,688-162,030,688
hg38 chr1:162,060,898-162,060,898 View the variant detail on this assembly version.

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.565
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
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 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
Annotation

Annotations

DescrptionSourceLinks
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
Seventeen patients (age = 56 ± 20 years; 12 men; 5 pacemakers; 12 defibrillators) undergoing lead ex... DisGeNET Detail
Gene
-
dbSNP
rs10918594 dbSNP
Genome
hg19
Position
chr1:162,030,688-162,030,688
Variant Type
snv
Reference Allele
C
Alternative Allele
G
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))
rs10918594
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5649
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
9468
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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