chr8:18415371:G>A Detail (hg38)

Information

Genome

Assembly Position
hg19 chr8:18,272,881-18,272,881 View the variant detail on this assembly version.
hg38 chr8:18,415,371-18,415,371

HGVS

[No Data.]
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
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.146 Bladder Neoplasm [A multi-stage genome-wide association study of bladder cancer identifies multip... GAD 20972438 Detail
0.027 Carcinoma of bladder These findings suggest that seven bladder cancer risk-associated variants (rs964... BeFree 24740636 Detail
0.107 Malignant neoplasm of urinary bladder These findings suggest that seven bladder cancer risk-associated variants (rs964... BeFree 24740636 Detail
Annotation

Annotations

DescrptionSourceLinks
[A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility lo... DisGeNET Detail
These findings suggest that seven bladder cancer risk-associated variants (rs9642880, rs2294008, rs7... DisGeNET Detail
These findings suggest that seven bladder cancer risk-associated variants (rs9642880, rs2294008, rs7... DisGeNET Detail
Gene
-
dbSNP
rs1495741 dbSNP
Genome
hg38
Position
chr8:18,415,371-18,415,371
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))
rs1495741
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3079
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5160
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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