chr18:43309911:C>T Detail (hg19) (SLC14A1)

Information

Genome

Assembly Position
hg19 chr18:43,309,911-43,309,911
hg38 chr18:45,729,946-45,729,946 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001146036.2:c.-21-354C>T
NM_015865.6:c.-21-354C>T
NM_001308278.1:c.-164-1069C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.066
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 613868 OMIM
HGNC 10918 HGNC
Ensembl ENSG00000141469 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv59880002 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
0.121 Malignant neoplasm of urinary bladder European genome-wide association study identifies SLC14A1 as a new urinary bladd... GWASCAT 21750109 Detail
0.005 Bladder Neoplasm [European genome-wide association study identifies SLC14A1 as a new urinary blad... GAD 21750109 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
European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibi... DisGeNET Detail
[European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptib... 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 Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs17674580 dbSNP
Genome
hg19
Position
chr18:43,309,911-43,309,911
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs17674580
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0661
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1108
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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