chr4:1734239:T>C Detail (hg19) (TACC3)

Information

Genome

Assembly Position
hg19 chr4:1,734,239-1,734,239
hg38 chr4:1,732,512-1,732,512 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_006342.2:c.1591+1211T>C
Ensemble ENST00000313288.9:c.1591+1211T>C
ENST00000651472.1:c.1591+1211T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.823
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
Type Database ID Link
Gene MIM 605303 OMIM
HGNC 11524 HGNC
Ensembl ENSG00000013810 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv15806025 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.027 Carcinoma of bladder Using data on high-risk occupations for 2258 case patients and 2410 control pati... BeFree 26374428 Detail
0.107 Malignant neoplasm of urinary bladder Using data on high-risk occupations for 2258 case patients and 2410 control pati... BeFree 26374428 Detail
0.001 Malignant neoplasm of urinary bladder Using data on high-risk occupations for 2258 case patients and 2410 control pati... BeFree 26374428 Detail
0.001 Carcinoma of bladder Using data on high-risk occupations for 2258 case patients and 2410 control pati... BeFree 26374428 Detail
0.008 Malignant neoplasm of urinary bladder In the meta-analysis, the reported risk allele for four SNPs were significantly ... BeFree 22711262 Detail
0.129 Malignant neoplasm of urinary bladder Three previously established bladder cancer risk-associated SNPs (rs798766 in TA... BeFree 24155119 Detail
0.004 Carcinoma of bladder In the meta-analysis, the reported risk allele for four SNPs were significantly ... BeFree 22711262 Detail
0.129 Malignant neoplasm of urinary bladder In the meta-analysis, the reported risk allele for four SNPs were significantly ... BeFree 22711262 Detail
0.007 Carcinoma of bladder In the meta-analysis, the reported risk allele for four SNPs were significantly ... BeFree 22711262 Detail
<0.001 Carcinoma of bladder Three previously established bladder cancer risk-associated SNPs (rs798766 in TA... BeFree 24155119 Detail
0.012 Malignant neoplasm of urinary bladder In the meta-analysis, the reported risk allele for four SNPs were significantly ... BeFree 22711262 Detail
0.123 Malignant neoplasm of urinary bladder In the meta-analysis, the reported risk allele for four SNPs were significantly ... BeFree 22711262 Detail
0.004 Carcinoma of bladder Three previously established bladder cancer risk-associated SNPs (rs798766 in TA... BeFree 24155119 Detail
0.123 Malignant neoplasm of urinary bladder Three previously established bladder cancer risk-associated SNPs (rs798766 in TA... BeFree 24155119 Detail
<0.001 Carcinoma of bladder In the meta-analysis, the reported risk allele for four SNPs were significantly ... BeFree 22711262 Detail
0.003 Carcinoma of bladder In the meta-analysis, the reported risk allele for four SNPs were significantly ... BeFree 22711262 Detail
<0.001 Malignant neoplasm of urinary bladder When we examined detailed data on a prevalent occupational exposure associated w... BeFree 26374428 Detail
0.123 Malignant neoplasm of urinary bladder When we examined detailed data on a prevalent occupational exposure associated w... BeFree 26374428 Detail
<0.001 Carcinoma of bladder When we examined detailed data on a prevalent occupational exposure associated w... BeFree 26374428 Detail
0.125 Bladder Neoplasm [A multi-stage genome-wide association study of bladder cancer identifies multip... GAD 20972438 Detail
0.123 Malignant neoplasm of urinary bladder The T allele of rs798766 on 4p16.3 was found to associate with UBC (odds ratio =... GWASCAT 20348956 Detail
0.123 Malignant neoplasm of urinary bladder Genome-wide association study identifies multiple loci associated with bladder c... GWASCAT 24163127 Detail
0.123 Malignant neoplasm of urinary bladder A multi-stage genome-wide association study of bladder cancer identifies multipl... GWASCAT 20972438 Detail
0.275 Malignant neoplasm of urinary bladder When we examined detailed data on a prevalent occupational exposure associated w... BeFree 26374428 Detail
<0.001 Carcinoma of bladder When we examined detailed data on a prevalent occupational exposure associated w... BeFree 26374428 Detail
0.019 Carcinoma of bladder When we examined detailed data on a prevalent occupational exposure associated w... BeFree 26374428 Detail
0.007 Carcinogenesis The interaction we observed for rs798766 (TMEM129-TACC3-FGFR3) with specific exp... BeFree 26374428 Detail
0.125 Bladder Neoplasm [A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer.] GAD 20348956 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
Using data on high-risk occupations for 2258 case patients and 2410 control patients from two bladde... DisGeNET Detail
Using data on high-risk occupations for 2258 case patients and 2410 control patients from two bladde... DisGeNET Detail
Using data on high-risk occupations for 2258 case patients and 2410 control patients from two bladde... DisGeNET Detail
Using data on high-risk occupations for 2258 case patients and 2410 control patients from two bladde... DisGeNET Detail
In the meta-analysis, the reported risk allele for four SNPs were significantly associated with incr... DisGeNET Detail
Three previously established bladder cancer risk-associated SNPs (rs798766 in TACC3, rs9642880 in MY... DisGeNET Detail
In the meta-analysis, the reported risk allele for four SNPs were significantly associated with incr... DisGeNET Detail
In the meta-analysis, the reported risk allele for four SNPs were significantly associated with incr... DisGeNET Detail
In the meta-analysis, the reported risk allele for four SNPs were significantly associated with incr... DisGeNET Detail
Three previously established bladder cancer risk-associated SNPs (rs798766 in TACC3, rs9642880 in MY... DisGeNET Detail
In the meta-analysis, the reported risk allele for four SNPs were significantly associated with incr... DisGeNET Detail
In the meta-analysis, the reported risk allele for four SNPs were significantly associated with incr... DisGeNET Detail
Three previously established bladder cancer risk-associated SNPs (rs798766 in TACC3, rs9642880 in MY... DisGeNET Detail
Three previously established bladder cancer risk-associated SNPs (rs798766 in TACC3, rs9642880 in MY... DisGeNET Detail
In the meta-analysis, the reported risk allele for four SNPs were significantly associated with incr... DisGeNET Detail
In the meta-analysis, the reported risk allele for four SNPs were significantly associated with incr... DisGeNET Detail
When we examined detailed data on a prevalent occupational exposure associated with increased bladde... DisGeNET Detail
When we examined detailed data on a prevalent occupational exposure associated with increased bladde... DisGeNET Detail
When we examined detailed data on a prevalent occupational exposure associated with increased bladde... DisGeNET Detail
[A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility lo... DisGeNET Detail
The T allele of rs798766 on 4p16.3 was found to associate with UBC (odds ratio = 1.24, P = 9.9 x 10(... DisGeNET Detail
Genome-wide association study identifies multiple loci associated with bladder cancer risk. DisGeNET Detail
A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loc... DisGeNET Detail
When we examined detailed data on a prevalent occupational exposure associated with increased bladde... DisGeNET Detail
When we examined detailed data on a prevalent occupational exposure associated with increased bladde... DisGeNET Detail
When we examined detailed data on a prevalent occupational exposure associated with increased bladde... DisGeNET Detail
The interaction we observed for rs798766 (TMEM129-TACC3-FGFR3) with specific exposure to straight me... DisGeNET Detail
[A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer.] 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

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs798766 dbSNP
Genome
hg19
Position
chr4:1,734,239-1,734,239
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))
rs798766
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.8231
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
13772
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16732
Genome browser