chr20:17441418:T>C Detail (hg38) (PCSK2)

Information

Genome

Assembly Position
hg19 chr20:17,422,063-17,422,063 View the variant detail on this assembly version.
hg38 chr20:17,441,418-17,441,418

HGVS

Type Transcript Protein
RefSeq NM_002594.4:c.885+4535T>C
NM_001201528.1:c.828+4535T>C
NM_001201529.2:c.780+4535T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.625
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 162151 OMIM
HGNC 8744 HGNC
Ensembl ENSG00000125851 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv63249205 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
0.340 Diabetes Mellitus, Non-Insulin-Dependent A case-control study was performed in Han Chinese subjects with normal control (... BeFree 21437630 Detail
Annotation

Annotations

DescrptionSourceLinks
A case-control study was performed in Han Chinese subjects with normal control (n=152) and T2DM (n=2... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2021785 dbSNP
Genome
hg38
Position
chr20:17,441,418-17,441,418
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs2021785
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6251
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
10476
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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