chr19:30296853:T>C Detail (hg19)

Information

Genome

Assembly Position
hg19 chr19:30,296,853-30,296,853
hg38 chr19:29,805,946-29,805,946 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:0.086
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 Carcinoma of bladder In a combined analysis, we identified three new regions associated with bladder ... BeFree 20972438 Detail
0.003 Malignant neoplasm of urinary bladder In a combined analysis, we identified three new regions associated with bladder ... BeFree 20972438 Detail
<0.001 Carcinoma of bladder In a combined analysis, we identified three new regions associated with bladder ... BeFree 20972438 Detail
0.001 Malignant neoplasm of urinary bladder In a combined analysis, we identified three new regions associated with bladder ... BeFree 20972438 Detail
0.002 Bladder Neoplasm [A multi-stage genome-wide association study of bladder cancer identifies multip... GAD 20972438 Detail
Annotation

Annotations

DescrptionSourceLinks
In a combined analysis, we identified three new regions associated with bladder cancer on chromosome... DisGeNET Detail
In a combined analysis, we identified three new regions associated with bladder cancer on chromosome... DisGeNET Detail
In a combined analysis, we identified three new regions associated with bladder cancer on chromosome... DisGeNET Detail
In a combined analysis, we identified three new regions associated with bladder cancer on chromosome... DisGeNET Detail
[A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility lo... DisGeNET Detail
Gene
-
dbSNP
rs8102137 dbSNP
Genome
hg19
Position
chr19:30,296,853-30,296,853
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs8102137
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0859
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1439
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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