chr3:17031505:A>G Detail (hg38) (PLCL2)

Information

Genome

Assembly Position
hg19 chr3:17,072,997-17,072,997 View the variant detail on this assembly version.
hg38 chr3:17,031,505-17,031,505

HGVS

Type Transcript Protein
RefSeq NM_015184.5:c.2641-11369A>G
NM_001144382.1:c.3019-11369A>G
Ensemble ENST00000432376.5:c.2641-11369A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.604
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 614276 OMIM
HGNC 9064 HGNC
Ensembl ENSG00000154822 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv11623609 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 Arthritis, Psoriatic Significant evidence for association with susceptibility to PsA was found toa SN... BeFree 22328738 Detail
<0.001 Arthritis, Psoriatic Significant evidence for association with susceptibility to PsA was found toa SN... BeFree 22328738 Detail
<0.001 Arthritis, Psoriatic Significant evidence for association with susceptibility to PsA was found toa SN... BeFree 22328738 Detail
<0.001 Arthritis, Psoriatic Significant evidence for association with susceptibility to PsA was found toa SN... BeFree 22328738 Detail
<0.001 Arthritis, Psoriatic Significant evidence for association with susceptibility to PsA was found toa SN... BeFree 22328738 Detail
<0.001 Arthritis, Psoriatic Significant evidence for association with susceptibility to PsA was found toa SN... BeFree 22328738 Detail
<0.001 Arthritis, Psoriatic Significant evidence for association with susceptibility to PsA was found toa SN... BeFree 22328738 Detail
Annotation

Annotations

DescrptionSourceLinks
Significant evidence for association with susceptibility to PsA was found toa SNP mapping to the REL... DisGeNET Detail
Significant evidence for association with susceptibility to PsA was found toa SNP mapping to the REL... DisGeNET Detail
Significant evidence for association with susceptibility to PsA was found toa SNP mapping to the REL... DisGeNET Detail
Significant evidence for association with susceptibility to PsA was found toa SNP mapping to the REL... DisGeNET Detail
Significant evidence for association with susceptibility to PsA was found toa SNP mapping to the REL... DisGeNET Detail
Significant evidence for association with susceptibility to PsA was found toa SNP mapping to the REL... DisGeNET Detail
Significant evidence for association with susceptibility to PsA was found toa SNP mapping to the REL... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs4535211 dbSNP
Genome
hg38
Position
chr3:17,031,505-17,031,505
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))
rs4535211
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6037
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
10118
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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