chr19:13836478:T>C Detail (hg38)

Information

Genome

Assembly Position
hg19 chr19:13,947,292-13,947,292 View the variant detail on this assembly version.
hg38 chr19:13,836,478-13,836,478

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.362
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.311

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.004 Malignant neoplasm of breast To explore the relevance of miRNA polymorphisms and female physiological charact... BeFree 22074121 Detail
<0.001 Non-small cell lung carcinoma Five SNPs found in pre-miRNAs (rs11614913/miR-196a2, rs2910164/miR-146a, rs65051... BeFree 22818121 Detail
0.001 Malignant neoplasm of breast To explore the relevance of miRNA polymorphisms and female physiological charact... BeFree 22074121 Detail
<0.001 breast carcinoma To explore the relevance of miRNA polymorphisms and female physiological charact... BeFree 22074121 Detail
<0.001 Malignant neoplasm of breast To explore the relevance of miRNA polymorphisms and female physiological charact... BeFree 22074121 Detail
0.002 breast carcinoma To explore the relevance of miRNA polymorphisms and female physiological charact... BeFree 22074121 Detail
0.001 breast carcinoma To explore the relevance of miRNA polymorphisms and female physiological charact... BeFree 22074121 Detail
<0.001 Carcinogenesis Inhibitory effect of minor allele T of rs2071504 SNP within the exon of POLR2A g... BeFree 22350505 Detail
0.001 Malignant neoplasm of stomach In summary, miR-27a rs895819 and miR-149 rs2292832 are of potential forewarning ... BeFree 25795117 Detail
0.001 stomach carcinoma In summary, miR-27a rs895819 and miR-149 rs2292832 are of potential forewarning ... BeFree 25795117 Detail
<0.001 Overweight Furthermore, the rs895819CC genotype in overweight people (24 ≤ body mass index ... BeFree 25673459 Detail
<0.001 Diabetes Mellitus, Non-Insulin-Dependent Two polymorphisms were associated with T2DM susceptibility: in particular, the G... BeFree 23532299 Detail
<0.001 Diabetes Mellitus, Non-Insulin-Dependent Two polymorphisms were associated with T2DM susceptibility: in particular, the G... BeFree 23532299 Detail
<0.001 Malignant neoplasm of stomach In conclusion, we were the first to show that a common polymorphism (rs895819) i... BeFree 20666778 Detail
<0.001 stomach carcinoma In conclusion, we were the first to show that a common polymorphism (rs895819) i... BeFree 20666778 Detail
0.080 ovarian carcinoma Based on Cox regression and Kaplan-Meier analyses, statistically significant dif... BeFree 19950226 Detail
0.280 Malignant neoplasm of ovary Based on Cox regression and Kaplan-Meier analyses, statistically significant dif... BeFree 19950226 Detail
Annotation

Annotations

DescrptionSourceLinks
To explore the relevance of miRNA polymorphisms and female physiological characteristics to breast c... DisGeNET Detail
Five SNPs found in pre-miRNAs (rs11614913/miR-196a2, rs2910164/miR-146a, rs6505162/miR-423, rs228903... DisGeNET Detail
To explore the relevance of miRNA polymorphisms and female physiological characteristics to breast c... DisGeNET Detail
To explore the relevance of miRNA polymorphisms and female physiological characteristics to breast c... DisGeNET Detail
To explore the relevance of miRNA polymorphisms and female physiological characteristics to breast c... DisGeNET Detail
To explore the relevance of miRNA polymorphisms and female physiological characteristics to breast c... DisGeNET Detail
To explore the relevance of miRNA polymorphisms and female physiological characteristics to breast c... DisGeNET Detail
Inhibitory effect of minor allele T of rs2071504 SNP within the exon of POLR2A gene was significantl... DisGeNET Detail
In summary, miR-27a rs895819 and miR-149 rs2292832 are of potential forewarning ability for gastric ... DisGeNET Detail
In summary, miR-27a rs895819 and miR-149 rs2292832 are of potential forewarning ability for gastric ... DisGeNET Detail
Furthermore, the rs895819CC genotype in overweight people (24 ≤ body mass index [BMI] &lt; 28) was s... DisGeNET Detail
Two polymorphisms were associated with T2DM susceptibility: in particular, the G allele of rs895819 ... DisGeNET Detail
Two polymorphisms were associated with T2DM susceptibility: in particular, the G allele of rs895819 ... DisGeNET Detail
In conclusion, we were the first to show that a common polymorphism (rs895819) in hsa-mir-27a, by mo... DisGeNET Detail
In conclusion, we were the first to show that a common polymorphism (rs895819) in hsa-mir-27a, by mo... DisGeNET Detail
Based on Cox regression and Kaplan-Meier analyses, statistically significant differences were noted ... DisGeNET Detail
Based on Cox regression and Kaplan-Meier analyses, statistically significant differences were noted ... 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
rs895819 dbSNP
Genome
hg38
Position
chr19:13,836,478-13,836,478
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))
rs895819
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3618
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6063
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
7526
East Asian Allele Counts (ExAC)
2342
East Asian Heterozygous Counts (ExAC)
1718
East Asian Homozygous Counts (ExAC)
312
East Asian Allele Frequency (ExAC)
0.31118788200903535
Chromosome Counts in All Race (ExAC)
106702
Allele Counts in All Race (ExAC)
38907
Heterozygous Counts in All Race (ExAC)
25625
Homozygous Counts in All Race (ExAC)
6641
Allele Frequency in All Race (ExAC)
0.36463234053719706
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