chr10:61764833:C>T Detail (hg38) (CABCOCO1)

Information

Genome

Assembly Position
hg19 chr10:63,524,591-63,524,591 View the variant detail on this assembly version.
hg38 chr10:61,764,833-61,764,833

HGVS

Type Transcript Protein
RefSeq NM_173554.2:c.553-1106C>T
Ensemble ENST00000330194.2:c.553-1106C>T
ENST00000648843.3:c.817-1106C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.144
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
HGNC 28678 HGNC
Ensembl ENSG00000183346 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv39490016 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
0.003 Hypertensive disease Out of the 52 SNPs analyzed, four SNPs including rs5326 (DRD1), rs1004467 (CYP17... BeFree 23133444 Detail
0.006 Hypertensive disease Out of the 52 SNPs analyzed, four SNPs including rs5326 (DRD1), rs1004467 (CYP17... BeFree 23133444 Detail
0.013 Hypertensive disease Out of the 52 SNPs analyzed, four SNPs including rs5326 (DRD1), rs1004467 (CYP17... BeFree 23133444 Detail
0.024 Hypertensive disease Out of the 52 SNPs analyzed, four SNPs including rs5326 (DRD1), rs1004467 (CYP17... BeFree 23133444 Detail
0.003 Hypertensive disease Out of the 52 SNPs analyzed, four SNPs including rs5326 (DRD1), rs1004467 (CYP17... BeFree 23133444 Detail
0.125 Systemic arterial pressure [Genome-wide association study identifies eight loci associated with blood press... GAD 19430483 Detail
0.125 Blood pressure finding [Genome-wide association study identifies eight loci associated with blood press... GAD 19430483 Detail
Annotation

Annotations

DescrptionSourceLinks
Out of the 52 SNPs analyzed, four SNPs including rs5326 (DRD1), rs1004467 (CYP17A1), rs2960306 (GRK4... DisGeNET Detail
Out of the 52 SNPs analyzed, four SNPs including rs5326 (DRD1), rs1004467 (CYP17A1), rs2960306 (GRK4... DisGeNET Detail
Out of the 52 SNPs analyzed, four SNPs including rs5326 (DRD1), rs1004467 (CYP17A1), rs2960306 (GRK4... DisGeNET Detail
Out of the 52 SNPs analyzed, four SNPs including rs5326 (DRD1), rs1004467 (CYP17A1), rs2960306 (GRK4... DisGeNET Detail
Out of the 52 SNPs analyzed, four SNPs including rs5326 (DRD1), rs1004467 (CYP17A1), rs2960306 (GRK4... DisGeNET Detail
[Genome-wide association study identifies eight loci associated with blood pressure.] DisGeNET Detail
[Genome-wide association study identifies eight loci associated with blood pressure.] DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1530440 dbSNP
Genome
hg38
Position
chr10:61,764,833-61,764,833
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))
rs1530440
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1438
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2410
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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