chr12:21295063:C>T Detail (hg38) (SLCO1A2)

Information

Genome

Assembly Position
hg19 chr12:21,447,997-21,447,997 View the variant detail on this assembly version.
hg38 chr12:21,295,063-21,295,063

HGVS

Type Transcript Protein
RefSeq NM_021094.3:c.1271+534G>A
NM_134431.3:c.1271+534G>A
Ensemble ENST00000307378.10:c.1271+534G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.114
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 602883 OMIM
HGNC 10956 HGNC
Ensembl ENSG00000084453 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv45194738 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
0.005 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
Annotation

Annotations

DescrptionSourceLinks
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

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs4149000 dbSNP
Genome
hg38
Position
chr12:21,295,063-21,295,063
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))
rs4149000
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1141
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1912
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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