chr19:11163601:G>T Detail (hg19) (SMARCA4)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr19:11,163,601-11,163,601 |
hg38 | chr19:11,052,925-11,052,925 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_003072.3:c.4425-5330G>T | |
NM_001128844.1:c.4425-5330G>T | ||
NM_001128845.1:c.4326-5330G>T |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.131 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:[No Data.] |
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2024-01-24 | criteria provided, single submitter | Rhabdoid tumor predisposition syndrome 2 |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
<0.001 | Vascular Diseases | Single-nucleotide polymorphisms associated with plasma LDL-c and vascular risk i... | BeFree | 24251769 | Detail |
<0.001 | Vascular Diseases | Single-nucleotide polymorphisms associated with plasma LDL-c and vascular risk i... | BeFree | 24251769 | Detail |
0.125 | myocardial infarction | [Genome-wide association of early-onset myocardial infarction with single nucleo... | GAD | 19198609 | Detail |
0.123 | Coronary heart disease | Large-scale association analysis identifies 13 new susceptibility loci for coron... | GWASCAT | 21378990 | Detail |
<0.001 | Peripheral Arterial Diseases | However, 2 previously reported candidate genes for PAD and 1 SNP associated with... | BeFree | 22199011 | Detail |
0.123 | Coronary heart disease | The aim of this study was to evaluate 3 single nucleotide polymorphisms in SMARC... | BeFree | 20810930 | Detail |
0.019 | Coronary Arteriosclerosis | However, 2 previously reported candidate genes for PAD and 1 SNP associated with... | BeFree | 22199011 | Detail |
0.152 | Cardiovascular Diseases | In the cardiovascular disease risk factor adjusted analysis, the most significan... | BeFree | 24219970 | Detail |
0.031 | coronary artery disease | However, 2 previously reported candidate genes for PAD and 1 SNP associated with... | BeFree | 22199011 | Detail |
<0.001 | Ischemic stroke | This is the first study that demonstrates that rs1122608 confers protection agai... | BeFree | 24190014 | Detail |
<0.001 | Coronary Arteriosclerosis | The aim of this study was to evaluate 3 single nucleotide polymorphisms in SMARC... | BeFree | 20810930 | Detail |
0.027 | Coronary heart disease | However, 2 previously reported candidate genes for PAD and 1 SNP associated with... | BeFree | 22199011 | Detail |
0.003 | Cardiovascular Diseases | In the cardiovascular disease risk factor adjusted analysis, the most significan... | BeFree | 24219970 | Detail |
0.167 | Coronary heart disease | However, 2 previously reported candidate genes for PAD and 1 SNP associated with... | BeFree | 22199011 | Detail |
<0.001 | Cerebrovascular accident | BRG1 variant rs1122608 on chromosome 19p13.2 confers protection against stroke a... | BeFree | 24190014 | Detail |
0.125 | myocardial infarction | Genome-wide association of early-onset myocardial infarction with single nucleot... | GWASCAT | 19198609 | Detail |
0.126 | coronary artery disease | The aim of this study was to evaluate 3 single nucleotide polymorphisms in SMARC... | BeFree | 20810930 | Detail |
<0.001 | Ischemic Cerebrovascular Accident | This is the first study that demonstrates that rs1122608 confers protection agai... | BeFree | 24190014 | Detail |
0.148 | coronary artery disease | However, 2 previously reported candidate genes for PAD and 1 SNP associated with... | BeFree | 22199011 | Detail |
0.028 | Coronary Arteriosclerosis | However, 2 previously reported candidate genes for PAD and 1 SNP associated with... | BeFree | 22199011 | Detail |
0.126 | coronary artery disease | Shared genetic susceptibility to ischemic stroke and coronary artery disease: a ... | GWASCAT | 24262325 | Detail |
0.126 | coronary artery disease | A single nucleotide polymorphism (SNP) rs1122608 on chromosome 19p13.2 and in th... | BeFree | 24190014 | Detail |
0.126 | coronary artery disease | [Large-scale association analysis identifies 13 new susceptibility loci for coro... | GAD | 21378990 | Detail |
<0.001 | Peripheral Arterial Diseases | However, 2 previously reported candidate genes for PAD and 1 SNP associated with... | BeFree | 22199011 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_003072.5(SMARCA4):c.4425-5330G>T AND Rhabdoid tumor predisposition syndrome 2 | ClinVar | Detail |
Single-nucleotide polymorphisms associated with plasma LDL-c and vascular risk in the general popula... | DisGeNET | Detail |
Single-nucleotide polymorphisms associated with plasma LDL-c and vascular risk in the general popula... | DisGeNET | Detail |
[Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms a... | DisGeNET | Detail |
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. | DisGeNET | Detail |
However, 2 previously reported candidate genes for PAD and 1 SNP associated with coronary artery dis... | DisGeNET | Detail |
The aim of this study was to evaluate 3 single nucleotide polymorphisms in SMARCA4-LDLR gene locus (... | DisGeNET | Detail |
However, 2 previously reported candidate genes for PAD and 1 SNP associated with coronary artery dis... | DisGeNET | Detail |
In the cardiovascular disease risk factor adjusted analysis, the most significant SNP was rs1122608:... | DisGeNET | Detail |
However, 2 previously reported candidate genes for PAD and 1 SNP associated with coronary artery dis... | DisGeNET | Detail |
This is the first study that demonstrates that rs1122608 confers protection against ischemic stroke ... | DisGeNET | Detail |
The aim of this study was to evaluate 3 single nucleotide polymorphisms in SMARCA4-LDLR gene locus (... | DisGeNET | Detail |
However, 2 previously reported candidate genes for PAD and 1 SNP associated with coronary artery dis... | DisGeNET | Detail |
In the cardiovascular disease risk factor adjusted analysis, the most significant SNP was rs1122608:... | DisGeNET | Detail |
However, 2 previously reported candidate genes for PAD and 1 SNP associated with coronary artery dis... | DisGeNET | Detail |
BRG1 variant rs1122608 on chromosome 19p13.2 confers protection against stroke and regulates express... | DisGeNET | Detail |
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms an... | DisGeNET | Detail |
The aim of this study was to evaluate 3 single nucleotide polymorphisms in SMARCA4-LDLR gene locus (... | DisGeNET | Detail |
This is the first study that demonstrates that rs1122608 confers protection against ischemic stroke ... | DisGeNET | Detail |
However, 2 previously reported candidate genes for PAD and 1 SNP associated with coronary artery dis... | DisGeNET | Detail |
However, 2 previously reported candidate genes for PAD and 1 SNP associated with coronary artery dis... | DisGeNET | Detail |
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis... | DisGeNET | Detail |
A single nucleotide polymorphism (SNP) rs1122608 on chromosome 19p13.2 and in the BRG1/SMARCA4 gene ... | DisGeNET | Detail |
[Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.... | DisGeNET | Detail |
However, 2 previously reported candidate genes for PAD and 1 SNP associated with coronary artery dis... | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs1122608 dbSNP
- Genome
- hg19
- Position
- chr19:11,163,601-11,163,601
- Variant Type
- snv
- Reference Allele
- G
- 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))
- rs1122608
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1311
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 2198
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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