chr18:75197550:C>A Detail (hg38) (PTGR3)

Information

Genome

Assembly Position
hg19 chr18:72,909,505-72,909,505 View the variant detail on this assembly version.
hg38 chr18:75,197,550-75,197,550

HGVS

Type Transcript Protein
RefSeq NM_175907.5:c.*3866G>T
Ensemble ENST00000322342.4:c.*3866G>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.450
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 620604 OMIM
HGNC 28697 HGNC
Ensembl ENSG00000180011 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv60545281 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 Chronic schizophrenia Five CART single nucleotide polymorphisms (SNPs) (rs10515115, rs3763153, rs38573... BeFree 24564533 Detail
<0.001 Chronic schizophrenia Five CART single nucleotide polymorphisms (SNPs) (rs10515115, rs3763153, rs38573... BeFree 24564533 Detail
Annotation

Annotations

DescrptionSourceLinks
Five CART single nucleotide polymorphisms (SNPs) (rs10515115, rs3763153, rs3857384, rs11575893, rs16... DisGeNET Detail
Five CART single nucleotide polymorphisms (SNPs) (rs10515115, rs3763153, rs3857384, rs11575893, rs16... 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
rs1047521 dbSNP
Genome
hg38
Position
chr18:75,197,550-75,197,550
Variant Type
snv
Reference Allele
C
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))
rs1047521
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4499
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7540
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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