chr10:13113726:T>C Detail (hg38) (OPTN)

Information

Genome

Assembly Position
hg19 chr10:13,155,726-13,155,726 View the variant detail on this assembly version.
hg38 chr10:13,113,726-13,113,726

HGVS

Type Transcript Protein
RefSeq NM_001008212.1:c.552+1091T>C
NM_001008211.1:c.552+1091T>C
NM_001008213.1:c.552+1091T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.454
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 602432 OMIM
HGNC 17142 HGNC
Ensembl ENSG00000123240 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv38424499 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 Diabetes Mellitus, Insulin-Dependent We identified novel cisSNP/transcript associations for human disease-associated ... BeFree 22685416 Detail
<0.001 ulcerative colitis We identified novel cisSNP/transcript associations for human disease-associated ... BeFree 22685416 Detail
0.006 Diabetes Mellitus, Insulin-Dependent We identified novel cisSNP/transcript associations for human disease-associated ... BeFree 22685416 Detail
<0.001 Diabetes Mellitus, Insulin-Dependent We identified novel cisSNP/transcript associations for human disease-associated ... BeFree 22685416 Detail
0.121 ulcerative colitis We identified novel cisSNP/transcript associations for human disease-associated ... BeFree 22685416 Detail
<0.001 ulcerative colitis We identified novel cisSNP/transcript associations for human disease-associated ... BeFree 22685416 Detail
0.123 progressive supranuclear palsy We identified novel cisSNP/transcript associations for human disease-associated ... BeFree 22685416 Detail
<0.001 progressive supranuclear palsy We identified novel cisSNP/transcript associations for human disease-associated ... BeFree 22685416 Detail
0.122 Paget's Disease Genome-wide association identifies three new susceptibility loci for Paget's dis... GWASCAT 21623375 Detail
0.125 Osteitis Deformans [Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A a... GAD 20436471 Detail
0.122 Paget's Disease [Genome-wide association identifies three new susceptibility loci for Paget\'s d... GAD 21623375 Detail
0.122 Paget's Disease Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as... GWASCAT 20436471 Detail
0.125 Osteitis Deformans [Genome-wide association identifies three new susceptibility loci for Paget\'s d... GAD 21623375 Detail
Annotation

Annotations

DescrptionSourceLinks
We identified novel cisSNP/transcript associations for human disease-associated variants, including ... DisGeNET Detail
We identified novel cisSNP/transcript associations for human disease-associated variants, including ... DisGeNET Detail
We identified novel cisSNP/transcript associations for human disease-associated variants, including ... DisGeNET Detail
We identified novel cisSNP/transcript associations for human disease-associated variants, including ... DisGeNET Detail
We identified novel cisSNP/transcript associations for human disease-associated variants, including ... DisGeNET Detail
We identified novel cisSNP/transcript associations for human disease-associated variants, including ... DisGeNET Detail
We identified novel cisSNP/transcript associations for human disease-associated variants, including ... DisGeNET Detail
We identified novel cisSNP/transcript associations for human disease-associated variants, including ... DisGeNET Detail
Genome-wide association identifies three new susceptibility loci for Paget's disease of bone. DisGeNET Detail
[Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk facto... DisGeNET Detail
[Genome-wide association identifies three new susceptibility loci for Paget\'s disease of bone.] DisGeNET Detail
Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factor... DisGeNET Detail
[Genome-wide association identifies three new susceptibility loci for Paget\'s disease of bone.] DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1561570 dbSNP
Genome
hg38
Position
chr10:13,113,726-13,113,726
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))
rs1561570
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4542
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7612
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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