chr12:130371771:C>T Detail (hg38) (PIWIL1)

Information

Genome

Assembly Position
hg19 chr12:130,856,316-130,856,316 View the variant detail on this assembly version.
hg38 chr12:130,371,771-130,371,771

HGVS

Type Transcript Protein
RefSeq NM_001190971.1:c.*173C>T
NM_004764.4:c.*173C>T
Ensemble ENST00000245255.7:c.*173C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.635
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 605571 OMIM
HGNC 9007 HGNC
Ensembl ENSG00000125207 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv47765321 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 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 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 hepatitis B These findings indicated that DICER1 rs1057035, RAN rs3803012, and PIWIL1 rs1077... BeFree 23868705 Detail
Annotation

Annotations

DescrptionSourceLinks
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
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
These findings indicated that DICER1 rs1057035, RAN rs3803012, and PIWIL1 rs10773771 might contribut... 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
rs10773771 dbSNP
Genome
hg38
Position
chr12:130,371,771-130,371,771
Variant Type
snv
Reference Allele
C
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))
rs10773771
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6353
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
10648
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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