chr1:86863156:G>A Detail (hg38) (SELENOF)

Information

Genome

Assembly Position
hg19 chr1:87,328,839-87,328,839 View the variant detail on this assembly version.
hg38 chr1:86,863,156-86,863,156

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000331835.10:c.*318C>T
ENST00000370554.5:c.*391C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.046
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 606254 OMIM
HGNC 17705 HGNC
Ensembl ENSG00000183291 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv2263340 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 Prostatic Diseases Three SNPs, namely GPx1 rs1050450, SEL15 rs5845 and CAT rs1001179, were signific... BeFree 23363810 Detail
<0.001 Prostatic Diseases Three SNPs, namely GPx1 rs1050450, SEL15 rs5845 and CAT rs1001179, were signific... BeFree 23363810 Detail
Annotation

Annotations

DescrptionSourceLinks
Three SNPs, namely GPx1 rs1050450, SEL15 rs5845 and CAT rs1001179, were significantly associated wit... DisGeNET Detail
Three SNPs, namely GPx1 rs1050450, SEL15 rs5845 and CAT rs1001179, were significantly associated wit... 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
rs5845 dbSNP
Genome
hg38
Position
chr1:86,863,156-86,863,156
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs5845
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0462
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
774
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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