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
Links
Type Database ID Link
Gene MIM 618991 OMIM
HGNC 10735 HGNC
Ensembl ENSG00000095539 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv40418469 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
<0.001 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&gt;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&gt;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&gt;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&gt;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 &gt; 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

DescrptionSourceLinks
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&gt;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&gt;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&gt;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&gt;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 &gt; 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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