chr12:21178615:T>C Detail (hg38) (SLCO1B1)

Information

Genome

Assembly Position
hg19 chr12:21,331,549-21,331,549 View the variant detail on this assembly version.
hg38 chr12:21,178,615-21,178,615

HGVS

Type Transcript Protein
RefSeq NM_006446.4:c.521T>C NP_006437.3:p.Val174Ala
Ensemble ENST00000256958.3:c.521T>C ENST00000256958.3:p.Val174Ala
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.150
ToMMo:0.142
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.126

Prediction

ClinVar

Clinical Significance drug response
Review star
Show details
Links
Type Database ID Link
Gene MIM 604843 OMIM
HGNC 10959 HGNC
Ensembl ENSG00000134538 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv45191768 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2023-11-30 criteria provided, multiple submitters, no conflicts Rotor syndrome germline Detail
Benign; other 2018-03-14 criteria provided, multiple submitters, no conflicts not provided germline Detail
drug response 2021-03-24 reviewed by expert panel germline Detail
Pathogenic 2019-05-01 no assertion criteria provided Gilbert syndrome inherited Detail
Benign no assertion criteria provided not specified germline Detail
drug response 2021-03-24 reviewed by expert panel germline Detail
drug response 2021-04-07 reviewed by expert panel germline Detail
drug response 2021-03-24 reviewed by expert panel germline Detail
drug response 2022-02-15 reviewed by expert panel germline Detail
drug response 2021-04-07 reviewed by expert panel germline Detail
drug response 2022-02-10 reviewed by expert panel germline Detail
drug response 2022-02-10 reviewed by expert panel germline Detail
drug response 2022-02-10 reviewed by expert panel germline Detail
drug response 2022-02-10 reviewed by expert panel germline Detail
drug response 2022-02-15 reviewed by expert panel germline Detail
drug response 2022-02-15 reviewed by expert panel germline Detail
drug response 2022-02-15 reviewed by expert panel germline Detail
drug response 2022-02-10 reviewed by expert panel germline Detail
drug response 2022-02-14 reviewed by expert panel germline Detail
Likely benign 2021-07-21 criteria provided, single submitter SLCO1B1-related disorder germline Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
cancer Methotrexate B Predictive Supports Adverse Response Common Germline 3 23652803 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.083 HIV Infections The aim of this study was to investigate the influence of CYP3A5 A6986G, ABCB1 (... BeFree 21743379 Detail
0.122 diffuse large B-cell lymphoma The present study evaluated the impact of single gene polymorphisms (SNPs: rs180... BeFree 23829278 Detail
0.026 HIV Infections The aim of this study was to investigate the influence of CYP3A5 A6986G, ABCB1 (... BeFree 21743379 Detail
0.013 diffuse large B-cell lymphoma The present study evaluated the impact of single gene polymorphisms (SNPs: rs180... BeFree 23829278 Detail
<0.001 Progesterone receptor positive tumor The aim of this study was to evaluate the association of CYP2D6*10 (c.100C&gt;T ... BeFree 25701109 Detail
<0.001 Progesterone receptor positive tumor The aim of this study was to evaluate the association of CYP2D6*10 (c.100C&gt;T ... BeFree 25701109 Detail
<0.001 Progesterone receptor positive tumor The aim of this study was to evaluate the association of CYP2D6*10 (c.100C&gt;T ... BeFree 25701109 Detail
0.005 cholelithiasis By using the presence of bilirubin as a phenotype, variants rs6742078 (UGT1A1; P... BeFree 20837016 Detail
0.003 cholelithiasis By using the presence of bilirubin as a phenotype, variants rs6742078 (UGT1A1; P... BeFree 20837016 Detail
0.005 cholecystolithiasis By using the presence of bilirubin as a phenotype, variants rs6742078 (UGT1A1; P... BeFree 20837016 Detail
0.003 cholecystolithiasis By using the presence of bilirubin as a phenotype, variants rs6742078 (UGT1A1; P... BeFree 20837016 Detail
0.136 myopathy SLCO1B1 rs4149056 polymorphism associated with statin-induced myopathy is differ... BeFree 21992719 Detail
0.001 Malignant neoplasm of breast These results suggest that the OATP1B1 T521C mutation may be an independent prog... BeFree 25701109 Detail
<0.001 Acute lymphocytic leukemia This replicates findings using different schedules of high-dose methotrexate in ... BeFree 23233662 Detail
0.136 myopathy Differential effect of the rs4149056 variant in SLCO1B1 on myopathy associated w... BeFree 21243006 Detail
0.017 myopathy SLCO1B1 rs4149056 polymorphism associated with statin-induced myopathy is differ... BeFree 21992719 Detail
0.017 myopathy However, when subjects were stratified by statin type, the SLCO1B1 rs4149056 gen... BeFree 21243006 Detail
0.001 breast carcinoma These results suggest that the OATP1B1 T521C mutation may be an independent prog... BeFree 25701109 Detail
0.136 myopathy The available evidence suggests that SLCO1B1 gene T521C polymorphism is associat... BeFree 26376374 Detail
0.136 myopathy [SLCO1B1 variants and statin-induced myopathy--a genomewide study.] GAD 18650507 Detail
0.136 myopathy Several factors increase the risk of developing statin-induced myopathy, includi... BeFree 19642078 Detail
0.003 Precursor Cell Lymphoblastic Leukemia Lymphoma This replicates findings using different schedules of high-dose methotrexate in ... BeFree 23233662 Detail
Annotation

Annotations

DescrptionSourceLinks
499 children from ALL trials treated with methotrexate were genotyped for 8 SNPs in 5 genes. The SLC... CIViC Evidence Detail
NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala) AND Rotor syndrome ClinVar Detail
NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala) AND not provided ClinVar Detail
NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala) AND simvastatin acid response - Metabolism/PK ClinVar Detail
NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala) AND Gilbert syndrome ClinVar Detail
NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala) AND not specified ClinVar Detail
NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala) AND rosuvastatin response - Metabolism/PK ClinVar Detail
NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala) AND simvastatin response - Toxicity ClinVar Detail
NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala) AND hmg coa reductase inhibitors response - Toxicity ClinVar Detail
NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala) AND atorvastatin response - Metabolism/PK ClinVar Detail
NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala) AND atorvastatin response - Toxicity ClinVar Detail
NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala) AND fluvastatin response - Metabolism/PK ClinVar Detail
NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala) AND fluvastatin response - Toxicity ClinVar Detail
NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala) AND lovastatin acid response - Metabolism/PK ClinVar Detail
NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala) AND lovastatin response - Metabolism/PK ClinVar Detail
NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala) AND lovastatin response - Toxicity ClinVar Detail
NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala) AND pitavastatin response - Metabolism/PK ClinVar Detail
NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala) AND pravastatin response - Toxicity ClinVar Detail
NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala) AND rosuvastatin response - Toxicity ClinVar Detail
NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala) AND simvastatin response - Metabolism/PK ClinVar Detail
NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala) AND SLCO1B1-related disorder ClinVar Detail
The aim of this study was to investigate the influence of CYP3A5 A6986G, ABCB1 (C3435T and G2677T), ... DisGeNET Detail
The present study evaluated the impact of single gene polymorphisms (SNPs: rs1801133 and rs1801131 i... DisGeNET Detail
The aim of this study was to investigate the influence of CYP3A5 A6986G, ABCB1 (C3435T and G2677T), ... DisGeNET Detail
The present study evaluated the impact of single gene polymorphisms (SNPs: rs1801133 and rs1801131 i... DisGeNET Detail
The aim of this study was to evaluate the association of CYP2D6*10 (c.100C&gt;T and c.1039C&gt;T), O... DisGeNET Detail
The aim of this study was to evaluate the association of CYP2D6*10 (c.100C&gt;T and c.1039C&gt;T), O... DisGeNET Detail
The aim of this study was to evaluate the association of CYP2D6*10 (c.100C&gt;T and c.1039C&gt;T), O... DisGeNET Detail
By using the presence of bilirubin as a phenotype, variants rs6742078 (UGT1A1; P = .003), rs4149056 ... DisGeNET Detail
By using the presence of bilirubin as a phenotype, variants rs6742078 (UGT1A1; P = .003), rs4149056 ... DisGeNET Detail
By using the presence of bilirubin as a phenotype, variants rs6742078 (UGT1A1; P = .003), rs4149056 ... DisGeNET Detail
By using the presence of bilirubin as a phenotype, variants rs6742078 (UGT1A1; P = .003), rs4149056 ... DisGeNET Detail
SLCO1B1 rs4149056 polymorphism associated with statin-induced myopathy is differently distributed ac... DisGeNET Detail
These results suggest that the OATP1B1 T521C mutation may be an independent prognostic marker for br... DisGeNET Detail
This replicates findings using different schedules of high-dose methotrexate in St Jude ALL treatmen... DisGeNET Detail
Differential effect of the rs4149056 variant in SLCO1B1 on myopathy associated with simvastatin and ... DisGeNET Detail
SLCO1B1 rs4149056 polymorphism associated with statin-induced myopathy is differently distributed ac... DisGeNET Detail
However, when subjects were stratified by statin type, the SLCO1B1 rs4149056 genotype was significan... DisGeNET Detail
These results suggest that the OATP1B1 T521C mutation may be an independent prognostic marker for br... DisGeNET Detail
The available evidence suggests that SLCO1B1 gene T521C polymorphism is associated with an increased... DisGeNET Detail
[SLCO1B1 variants and statin-induced myopathy--a genomewide study.] DisGeNET Detail
Several factors increase the risk of developing statin-induced myopathy, including the single nucleo... DisGeNET Detail
This replicates findings using different schedules of high-dose methotrexate in St Jude ALL treatmen... 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
rs4149056 dbSNP
Genome
hg38
Position
chr12:21,178,615-21,178,615
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
114.99
Standard deviation of sample read depth (HGVD)
50.81
Number of reference allele (HGVD)
2055
Number of alternative allele (HGVD)
364
Allele Frequency (HGVD)
0.15047540305911533
Gene Symbol (HGVD)
SLCO1B1
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))
rs4149056
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1424
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2387
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8640
East Asian Allele Counts (ExAC)
1091
East Asian Heterozygous Counts (ExAC)
959
East Asian Homozygous Counts (ExAC)
66
East Asian Allele Frequency (ExAC)
0.12627314814814813
Chromosome Counts in All Race (ExAC)
121290
Allele Counts in All Race (ExAC)
15699
Heterozygous Counts in All Race (ExAC)
13247
Homozygous Counts in All Race (ExAC)
1226
Allele Frequency in All Race (ExAC)
0.12943358891911946
Variant (CIViC) (CIViC Variant)
RS4149056
Transcript 1 (CIViC Variant)
ENST00000256958.2
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/777
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