chr10:102734778:C>G Detail (hg19) (SEMA4G)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr10:102,734,778-102,734,778 |
hg38 | chr10:100,975,021-100,975,021 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001203244.1:c.336+1412C>G | |
NM_017893.3:c.336+1412C>G | ||
Ensemble | ENST00000517724.5:c.336+1412C>G |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.563 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.548 |
Prediction
ClinVar
Clinical Significance | |
Review star | [No Data.] |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
<0.001 | liver carcinoma | Association study of miR‑149 rs2292832 and miR‑608 rs4919510 and the risk of hep... | BeFree | 25190221 | Detail |
<0.001 | liver carcinoma | Association study of miR‑149 rs2292832 and miR‑608 rs4919510 and the risk of hep... | BeFree | 25190221 | Detail |
0.240 | Malignant neoplasm of breast | Polymorphism rs4919510:C>G in mature sequence of human microRNA-608 contribut... | BeFree | 22586447 | Detail |
<0.001 | colorectal carcinoma | rs4919510 in hsa-mir-608 is associated with outcome but not risk of colorectal c... | BeFree | 22606253 | Detail |
0.080 | breast carcinoma | Polymorphism rs4919510:C>G in mature sequence of human microRNA-608 contribut... | BeFree | 22586447 | Detail |
<0.001 | colorectal cancer | rs4919510 in hsa-mir-608 is associated with outcome but not risk of colorectal c... | BeFree | 22606253 | Detail |
<0.001 | breast carcinoma | Polymorphism rs4919510:C>G in mature sequence of human microRNA-608 contribut... | BeFree | 22586447 | Detail |
<0.001 | Septicemia | Our results indicate that the rs4919510G/C SNP in hsa-mir-608 may be a prognosti... | BeFree | 24743625 | Detail |
<0.001 | Malignant neoplasm of breast | Polymorphism rs4919510:C>G in mature sequence of human microRNA-608 contribut... | BeFree | 22586447 | Detail |
<0.001 | Sepsis | Our results indicate that the rs4919510G/C SNP in hsa-mir-608 may be a prognosti... | BeFree | 24743625 | Detail |
<0.001 | Nasopharyngeal carcinoma | Our findings reveal rs4919510C > G in miR-608 as a simple marker to predict L... | BeFree | 23796562 | Detail |
<0.001 | Nasopharyngeal carcinoma | In this study, we analyzed associations between eight SNPs in miRNA mature seque... | BeFree | 25861865 | Detail |
<0.001 | Nasopharyngeal carcinoma | In this study, we analyzed associations between eight SNPs in miRNA mature seque... | BeFree | 25861865 | Detail |
<0.001 | Nasopharyngeal carcinoma | In this study, we analyzed associations between eight SNPs in miRNA mature seque... | BeFree | 25861865 | Detail |
<0.001 | Nasopharyngeal carcinoma | In this study, we analyzed associations between eight SNPs in miRNA mature seque... | BeFree | 25861865 | Detail |
<0.001 | Nasopharyngeal carcinoma | In this study, we analyzed associations between eight SNPs in miRNA mature seque... | BeFree | 25861865 | Detail |
<0.001 | Nasopharyngeal carcinoma | In this study, we analyzed associations between eight SNPs in miRNA mature seque... | BeFree | 25861865 | Detail |
<0.001 | Nasopharyngeal carcinoma | In this study, we analyzed associations between eight SNPs in miRNA mature seque... | BeFree | 25861865 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Association study of miR‑149 rs2292832 and miR‑608 rs4919510 and the risk of hepatocellular carcinom... | DisGeNET | Detail |
Association study of miR‑149 rs2292832 and miR‑608 rs4919510 and the risk of hepatocellular carcinom... | DisGeNET | Detail |
Polymorphism rs4919510:C>G in mature sequence of human microRNA-608 contributes to the risk of HE... | DisGeNET | Detail |
rs4919510 in hsa-mir-608 is associated with outcome but not risk of colorectal cancer. | DisGeNET | Detail |
Polymorphism rs4919510:C>G in mature sequence of human microRNA-608 contributes to the risk of HE... | DisGeNET | Detail |
rs4919510 in hsa-mir-608 is associated with outcome but not risk of colorectal cancer. | DisGeNET | Detail |
Polymorphism rs4919510:C>G in mature sequence of human microRNA-608 contributes to the risk of HE... | DisGeNET | Detail |
Our results indicate that the rs4919510G/C SNP in hsa-mir-608 may be a prognostic biomarker for seps... | DisGeNET | Detail |
Polymorphism rs4919510:C>G in mature sequence of human microRNA-608 contributes to the risk of HE... | DisGeNET | Detail |
Our results indicate that the rs4919510G/C SNP in hsa-mir-608 may be a prognostic biomarker for seps... | DisGeNET | Detail |
Our findings reveal rs4919510C > G in miR-608 as a simple marker to predict LRR in patients with ... | DisGeNET | Detail |
In this study, we analyzed associations between eight SNPs in miRNA mature sequences (i.e., rs374644... | DisGeNET | Detail |
In this study, we analyzed associations between eight SNPs in miRNA mature sequences (i.e., rs374644... | DisGeNET | Detail |
In this study, we analyzed associations between eight SNPs in miRNA mature sequences (i.e., rs374644... | DisGeNET | Detail |
In this study, we analyzed associations between eight SNPs in miRNA mature sequences (i.e., rs374644... | DisGeNET | Detail |
In this study, we analyzed associations between eight SNPs in miRNA mature sequences (i.e., rs374644... | DisGeNET | Detail |
In this study, we analyzed associations between eight SNPs in miRNA mature sequences (i.e., rs374644... | DisGeNET | Detail |
In this study, we analyzed associations between eight SNPs in miRNA mature sequences (i.e., rs374644... | 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
- rs4919510 dbSNP
- Genome
- hg19
- Position
- chr10:102,734,778-102,734,778
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
- 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))
- rs4919510
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.5633
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 9441
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8476
- East Asian Allele Counts (ExAC)
- 4644
- East Asian Heterozygous Counts (ExAC)
- 2084
- East Asian Homozygous Counts (ExAC)
- 1280
- East Asian Allele Frequency (ExAC)
- 0.5478999528079282
- Chromosome Counts in All Race (ExAC)
- 118146
- Allele Counts in All Race (ExAC)
- 31997
- Heterozygous Counts in All Race (ExAC)
- 21905
- Homozygous Counts in All Race (ExAC)
- 5046
- Allele Frequency in All Race (ExAC)
- 0.27082592724256427
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