chr3:189928144:T>C Detail (hg38)

Information

Genome

Assembly Position
hg19 chr3:189,645,933-189,645,933 View the variant detail on this assembly version.
hg38 chr3:189,928,144-189,928,144

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.244
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
0.003 Carcinoma of bladder We genotyped rs9642880 G>T on 8q24 and rs710521 A>G on 3q28 in a two-stage... BeFree 19369583 Detail
0.013 Bladder Neoplasm [A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer.] GAD 20348956 Detail
0.011 Malignant neoplasm of urinary bladder [Rs710521A on chromosome 3q28 close to TP63 is associated with increased urinary... GAD 21063684 Detail
0.008 Malignant neoplasm of urinary bladder We genotyped rs9642880 G>T on 8q24 and rs710521 A>G on 3q28 in a two-stage... BeFree 19369583 Detail
0.013 Bladder Neoplasm [A multi-stage genome-wide association study of bladder cancer identifies multip... GAD 20972438 Detail
0.011 Malignant neoplasm of urinary bladder [Sequence variant on 8q24 confers susceptibility to urinary bladder cancer.] GAD 18794855 Detail
0.013 Bladder Neoplasm [Sequence variant on 8q24 confers susceptibility to urinary bladder cancer.] GAD 18794855 Detail
Annotation

Annotations

DescrptionSourceLinks
We genotyped rs9642880 G>T on 8q24 and rs710521 A>G on 3q28 in a two-stage case-control study ... DisGeNET Detail
[A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer.] DisGeNET Detail
[Rs710521A on chromosome 3q28 close to TP63 is associated with increased urinary bladder cancer risk... DisGeNET Detail
We genotyped rs9642880 G>T on 8q24 and rs710521 A>G on 3q28 in a two-stage case-control study ... DisGeNET Detail
[A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility lo... DisGeNET Detail
[Sequence variant on 8q24 confers susceptibility to urinary bladder cancer.] DisGeNET Detail
[Sequence variant on 8q24 confers susceptibility to urinary bladder cancer.] DisGeNET Detail
Gene
-
dbSNP
rs710521 dbSNP
Genome
hg38
Position
chr3:189,928,144-189,928,144
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))
rs710521
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2436
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4082
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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