chr19:30064396:A>G Detail (hg19)

Information

Genome

Assembly Position
hg19 chr19:30,064,396-30,064,396
hg38 chr19:29,573,489-29,573,489 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:1.000
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 Coronary heart disease The results showed that 3 SNPs in whites (rs599839, rs1333049, and rs501120; HRR... BeFree 19955471 Detail
<0.001 Coronary heart disease The results showed that 3 SNPs in whites (rs599839, rs1333049, and rs501120; HRR... BeFree 19955471 Detail
Annotation

Annotations

DescrptionSourceLinks
The results showed that 3 SNPs in whites (rs599839, rs1333049, and rs501120; HRRs were 1.10 (P = 0.0... DisGeNET Detail
The results showed that 3 SNPs in whites (rs599839, rs1333049, and rs501120; HRRs were 1.10 (P = 0.0... DisGeNET Detail
Gene
-
dbSNP
rs7250581 dbSNP
Genome
hg19
Position
chr19:30,064,396-30,064,396
Variant Type
snv
Reference Allele
A
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))
rs7250581
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.9998
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16757
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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