chr2:233656637:A>C Detail (hg38) (UGT1A10, UGT1A8)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr2:234,565,283-234,565,283 View the variant detail on this assembly version.
hg38	chr2:233,656,637-233,656,637

HGVS

UGT1A10
UGT1A8

Type	Transcript	Protein
RefSeq	NM_019075.2:c.855+19260A>C
Ensemble	ENST00000344644.10:c.855+19260A>C
	ENST00000373445.1:c.855+19260A>C

Type	Transcript	Protein
RefSeq	NM_019076.4:c.855+38075A>C
Ensemble	ENST00000373450.5:c.855+38075A>C

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:0.007
	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

UGT1A10
UGT1A8

Type	Database	ID	Link
Gene	MIM	606435	OMIM
	HGNC	12531	HGNC
	Ensembl	ENSG00000242515	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv10916710	TogoVar
	COSMIC
	MONDO

Type	Database	ID	Link
Gene	MIM	606433	OMIM
	HGNC	12540	HGNC
	Ensembl	ENSG00000242366	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv10916710	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
0.120	Malignant neoplasm of urinary bladder	A multi-stage genome-wide association study of bladder cancer identifies multipl...	GWASCAT	20972438	Detail
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
0.122	Malignant neoplasm of urinary bladder	Genome-wide association study identifies multiple loci associated with bladder c...	GWASCAT	24163127	Detail
0.122	Malignant neoplasm of urinary bladder	A multi-stage genome-wide association study of bladder cancer identifies multipl...	GWASCAT	20972438	Detail
0.120	Malignant neoplasm of urinary bladder	Genome-wide association study identifies multiple loci associated with bladder c...	GWASCAT	24163127	Detail
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

Annotation

Annotations

Descrption	Source	Links
A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loc...	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
Using data on high-risk occupations for 2258 case patients and 2410 control patients from two bladde...	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
Genome-wide association study identifies multiple loci associated with bladder cancer risk.	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
In a combined analysis, we identified three new regions associated with bladder cancer on chromosome...	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs11892031 dbSNP
Genome: hg38
Position: chr2:233,656,637-233,656,637
Variant Type: snv
Reference Allele: A
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)): rs11892031
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.0072
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 120
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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