chr10:104846178:T>C Detail (hg19) (CNNM2)

Information

Genome

Assembly Position
hg19 chr10:104,846,178-104,846,178
hg38 chr10:103,086,421-103,086,421 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_017649.4:c.*9241T>C
Ensemble ENST00000369878.9:c.*9241T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.259
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 607803 OMIM
HGNC 103 HGNC
Ensembl ENSG00000148842 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv40481797 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
<0.001 Hypertensive disease The genetic risk score, calculated as the sum of BP-increasing alleles of FGF5-r... BeFree 20852445 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
0.002 Hypertensive disease The genetic risk score, calculated as the sum of BP-increasing alleles of FGF5-r... BeFree 20852445 Detail
0.003 Hypertensive disease Out of the 52 SNPs analyzed, four SNPs including rs5326 (DRD1), rs1004467 (CYP17... BeFree 23133444 Detail
0.013 Hypertensive disease The present meta-analysis indicated significant associations of both CYP17A1 rs1... BeFree 22959498 Detail
0.013 Hypertensive disease Common polymorphism rs11191548 near the CYP17A1 gene is associated with hyperten... BeFree 23467202 Detail
0.129 Blood pressure finding [Meta-analysis of genome-wide association studies identifies common variants ass... GAD 21572416 Detail
0.129 Blood pressure finding [Genome-wide association study identifies eight loci associated with blood press... GAD 19430483 Detail
0.013 Hypertensive disease A single nucleotide polymorphism (SNP) near CYP17A1, rs11191548, showed signific... BeFree 22048715 Detail
0.129 Systemic arterial pressure [Meta-analysis of genome-wide association studies identifies common variants ass... GAD 21572416 Detail
0.129 Systemic arterial pressure [Genome-wide association study identifies eight loci associated with blood press... GAD 19430483 Detail
0.129 Systemic arterial pressure [Genetic variants in novel pathways influence blood pressure and cardiovascular ... GAD 21909115 Detail
0.129 Blood pressure finding [Genetic variants in novel pathways influence blood pressure and cardiovascular ... GAD 21909115 Detail
0.129 Blood pressure finding [Genome-wide association study identifies six new loci influencing pulse pressur... GAD 21909110 Detail
0.129 Systemic arterial pressure [Genome-wide association study identifies six new loci influencing pulse pressur... GAD 21909110 Detail
Annotation

Annotations

DescrptionSourceLinks
Out of the 52 SNPs analyzed, four SNPs including rs5326 (DRD1), rs1004467 (CYP17A1), rs2960306 (GRK4... DisGeNET Detail
The genetic risk score, calculated as the sum of BP-increasing alleles of FGF5-rs16998073, CYP17A1-r... 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
The genetic risk score, calculated as the sum of BP-increasing alleles of FGF5-rs16998073, CYP17A1-r... DisGeNET Detail
Out of the 52 SNPs analyzed, four SNPs including rs5326 (DRD1), rs1004467 (CYP17A1), rs2960306 (GRK4... DisGeNET Detail
The present meta-analysis indicated significant associations of both CYP17A1 rs11191548 and FGF5 rs1... DisGeNET Detail
Common polymorphism rs11191548 near the CYP17A1 gene is associated with hypertension and systolic bl... DisGeNET Detail
[Meta-analysis of genome-wide association studies identifies common variants associated with blood p... DisGeNET Detail
[Genome-wide association study identifies eight loci associated with blood pressure.] DisGeNET Detail
A single nucleotide polymorphism (SNP) near CYP17A1, rs11191548, showed significant association with... DisGeNET Detail
[Meta-analysis of genome-wide association studies identifies common variants associated with blood p... DisGeNET Detail
[Genome-wide association study identifies eight loci associated with blood pressure.] DisGeNET Detail
[Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.] DisGeNET Detail
[Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.] DisGeNET Detail
[Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial ... DisGeNET Detail
[Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial ... 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
rs11191548 dbSNP
Genome
hg19
Position
chr10:104,846,178-104,846,178
Variant Type
snv
Reference Allele
T
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))
rs11191548
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2586
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4334
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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