chr11:116782580:C>T Detail (hg38) (ZPR1)

Information

Genome

Assembly Position
hg19 chr11:116,653,296-116,653,296 View the variant detail on this assembly version.
hg38 chr11:116,782,580-116,782,580

HGVS

Type Transcript Protein
RefSeq NM_003904.4:c.1093-336G>A
Ensemble ENST00000227322.8:c.1093-336G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.721
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 603901 OMIM
HGNC 13051 HGNC
Ensembl ENSG00000109917 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv44156579 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
0.125 Metabolic syndrome X [Qualitative and quantitative pleiotropic tests on pairs of traits indicate that... GAD 21386085 Detail
0.125 Metabolic syndrome X A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium. GWASCAT 21386085 Detail
<0.001 Hypercholesterolemia The ZNF259 rs2075290, ZNF259 rs964184 and BUD13 rs10790162 SNPs were significant... BeFree 24780069 Detail
Annotation

Annotations

DescrptionSourceLinks
[Qualitative and quantitative pleiotropic tests on pairs of traits indicate that a small portion of ... DisGeNET Detail
A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium. DisGeNET Detail
The ZNF259 rs2075290, ZNF259 rs964184 and BUD13 rs10790162 SNPs were significantly associated with s... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2075290 dbSNP
Genome
hg38
Position
chr11:116,782,580-116,782,580
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))
rs2075290
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.721
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
12083
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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