chr12:131360715:A>G Detail (hg19) (RAN)

Information

Genome

Assembly Position
hg19 chr12:131,360,715-131,360,715
hg38 chr12:130,876,170-130,876,170 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_006325.4:c.*244A>G
Ensemble ENST00000541679.7:c.*291A>G
ENST00000543796.6:c.*244A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.012
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 601179 OMIM
HGNC 9846 HGNC
Ensembl ENSG00000132341 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv47780459 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 hepatitis B We observed that DICER1 rs1057035 CT/CC variant genotypes were associated with a... BeFree 23868705 Detail
<0.001 liver carcinoma These findings indicated that DICER1 rs1057035, RAN rs3803012, and PIWIL1 rs1077... BeFree 23868705 Detail
<0.001 liver carcinoma These findings indicated that DICER1 rs1057035, RAN rs3803012, and PIWIL1 rs1077... BeFree 23868705 Detail
<0.001 Persistent infection We observed that DICER1 rs1057035 CT/CC variant genotypes were associated with a... BeFree 23868705 Detail
<0.001 hepatitis B These findings indicated that DICER1 rs1057035, RAN rs3803012, and PIWIL1 rs1077... BeFree 23868705 Detail
<0.001 Cancer of Head and Neck To test this hypothesis, we genotyped three SNPs at miRNA binding sites of miRNA... BeFree 23071822 Detail
<0.001 liver carcinoma We observed that DICER1 rs1057035 CT/CC variant genotypes were associated with a... BeFree 23868705 Detail
<0.001 hepatitis B These findings indicated that DICER1 rs1057035, RAN rs3803012, and PIWIL1 rs1077... BeFree 23868705 Detail
<0.001 Persistent infection We observed that DICER1 rs1057035 CT/CC variant genotypes were associated with a... BeFree 23868705 Detail
Annotation

Annotations

DescrptionSourceLinks
We observed that DICER1 rs1057035 CT/CC variant genotypes were associated with a significant decreas... DisGeNET Detail
These findings indicated that DICER1 rs1057035, RAN rs3803012, and PIWIL1 rs10773771 might contribut... DisGeNET Detail
These findings indicated that DICER1 rs1057035, RAN rs3803012, and PIWIL1 rs10773771 might contribut... DisGeNET Detail
We observed that DICER1 rs1057035 CT/CC variant genotypes were associated with a significant decreas... DisGeNET Detail
These findings indicated that DICER1 rs1057035, RAN rs3803012, and PIWIL1 rs10773771 might contribut... DisGeNET Detail
To test this hypothesis, we genotyped three SNPs at miRNA binding sites of miRNA processing genes (r... DisGeNET Detail
We observed that DICER1 rs1057035 CT/CC variant genotypes were associated with a significant decreas... DisGeNET Detail
These findings indicated that DICER1 rs1057035, RAN rs3803012, and PIWIL1 rs10773771 might contribut... DisGeNET Detail
We observed that DICER1 rs1057035 CT/CC variant genotypes were associated with a significant decreas... 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
rs3803012 dbSNP
Genome
hg19
Position
chr12:131,360,715-131,360,715
Variant Type
snv
Reference Allele
A
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))
rs3803012
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0119
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
199
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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