chr1:150738197:C>T Detail (hg19) (CTSS)

Information

Genome

Assembly Position
hg19 chr1:150,738,197-150,738,197
hg38 chr1:150,765,721-150,765,721 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001199739.1:c.-25G>A
NM_004079.4:c.-25G>A
Ensemble ENST00000680664.1:c.-75G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.465
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 116845 OMIM
HGNC 2545 HGNC
Ensembl ENSG00000163131 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv3170064 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 Coronary heart disease CTSS promoter -25G/A: not a risk factor for CHD in Chinese. BeFree 19593952 Detail
0.013 obesity In the obese cohort, associations were found between three tSNPs and Apo-A1 leve... BeFree 18565099 Detail
Annotation

Annotations

DescrptionSourceLinks
CTSS promoter -25G/A: not a risk factor for CHD in Chinese. DisGeNET Detail
In the obese cohort, associations were found between three tSNPs and Apo-A1 levels in adult female s... 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
rs1136774 dbSNP
Genome
hg19
Position
chr1:150,738,197-150,738,197
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))
rs1136774
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4645
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7785
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser