chr8:100800465:G>A Detail (hg38)

Information

Genome

Assembly Position
hg19 chr8:101,812,693-101,812,693 View the variant detail on this assembly version.
hg38 chr8:100,800,465-100,800,465

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.467
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 premature menopause To identify whether variants found in a large Han Chinese cohort - 8q22.3 SNPs r... BeFree 24103315 Detail
0.002 premature menopause To identify whether variants found in a large Han Chinese cohort - 8q22.3 SNPs r... BeFree 24103315 Detail
Annotation

Annotations

DescrptionSourceLinks
To identify whether variants found in a large Han Chinese cohort - 8q22.3 SNPs rs3847153 and rs31089... DisGeNET Detail
To identify whether variants found in a large Han Chinese cohort - 8q22.3 SNPs rs3847153 and rs31089... DisGeNET Detail
Gene
-
dbSNP
rs3108910 dbSNP
Genome
hg38
Position
chr8:100,800,465-100,800,465
Variant Type
snv
Reference Allele
G
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))
rs3108910
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4665
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7819
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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