chr10:104939215:T>C Detail (hg19) (NT5C2)

Information

Genome

Assembly Position
hg19 chr10:104,939,215-104,939,215
hg38 chr10:103,179,458-103,179,458 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001134373.2:c.-24-4476A>G
NM_012229.4:c.-24-4476A>G
Ensemble ENST00000675645.1:c.-24-4476A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.258
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 600417 OMIM
HGNC 8022 HGNC
Ensembl ENSG00000076685 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv40484121 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
0.129 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
0.129 Blood pressure finding Genome-wide association study identifies six new loci influencing pulse pressure... GWASCAT 21909110 Detail
0.129 Blood pressure finding Genome-wide association study meta-analysis reveals transethnic replication of m... GWASCAT 24001895 Detail
0.129 Systemic arterial pressure Genome-wide association study identifies six new loci influencing pulse pressure... GWASCAT 21909110 Detail
0.129 Systemic arterial pressure Genome-wide association study meta-analysis reveals transethnic replication of m... GWASCAT 24001895 Detail
Annotation

Annotations

DescrptionSourceLinks
[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
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial p... DisGeNET Detail
Genome-wide association study meta-analysis reveals transethnic replication of mean arterial and pul... DisGeNET Detail
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial p... DisGeNET Detail
Genome-wide association study meta-analysis reveals transethnic replication of mean arterial and pul... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs11191593 dbSNP
Genome
hg19
Position
chr10:104,939,215-104,939,215
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))
rs11191593
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2581
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4326
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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