chr11:16987058:T>C Detail (hg38) (PLEKHA7)

Information

Genome

Assembly Position
hg19 chr11:17,008,605-17,008,605 View the variant detail on this assembly version.
hg38 chr11:16,987,058-16,987,058

HGVS

Type Transcript Protein
RefSeq NM_175058.4:c.221+26931A>G
Ensemble ENST00000355661.7:c.221+26931A>G
ENST00000531066.6:c.221+26931A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.447
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 612686 OMIM
HGNC 27049 HGNC
Ensembl ENSG00000166689 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv41755074 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 primary angle-closure glaucoma Three susceptibility loci for primary angle-closure glaucoma (PACG) were recentl... BeFree 23920366 Detail
0.001 primary angle-closure glaucoma Three susceptibility loci for primary angle-closure glaucoma (PACG) were recentl... BeFree 23920366 Detail
0.001 primary angle-closure glaucoma Three susceptibility loci for primary angle-closure glaucoma (PACG) were recentl... BeFree 23920366 Detail
0.001 primary angle-closure glaucoma Recently, three genetic susceptibility loci for primary angle closure glaucoma (... BeFree 24474268 Detail
0.001 primary angle-closure glaucoma Three loci defined by single nucleotide polymorphisms (SNPs) rs11024102 in PLEKH... BeFree 23847314 Detail
0.001 primary angle-closure glaucoma Recently, three genetic susceptibility loci for primary angle closure glaucoma (... BeFree 24474268 Detail
0.001 primary angle-closure glaucoma Three susceptibility loci for primary angle-closure glaucoma (PACG) were recentl... BeFree 23920366 Detail
0.001 primary angle-closure glaucoma Recently, three genetic susceptibility loci for primary angle closure glaucoma (... BeFree 24474268 Detail
0.001 primary angle-closure glaucoma Three loci defined by single nucleotide polymorphisms (SNPs) rs11024102 in PLEKH... BeFree 23847314 Detail
0.001 primary angle-closure glaucoma Recently, three genetic susceptibility loci for primary angle closure glaucoma (... BeFree 24474268 Detail
0.121 glaucoma Genome-wide association analyses identify three new susceptibility loci for prim... GWASCAT 22922875 Detail
0.120 Angle Closure Glaucoma Our study suggests that rs1676486 and rs12138977 in COL11A1 as well as rs216489 ... BeFree 24854855 Detail
0.120 Angle Closure Glaucoma Our study suggests that rs1676486 and rs12138977 in COL11A1 as well as rs216489 ... BeFree 24854855 Detail
Annotation

Annotations

DescrptionSourceLinks
Three susceptibility loci for primary angle-closure glaucoma (PACG) were recently identified: PLEKHA... DisGeNET Detail
Three susceptibility loci for primary angle-closure glaucoma (PACG) were recently identified: PLEKHA... DisGeNET Detail
Three susceptibility loci for primary angle-closure glaucoma (PACG) were recently identified: PLEKHA... DisGeNET Detail
Recently, three genetic susceptibility loci for primary angle closure glaucoma (PACG) were identifie... DisGeNET Detail
Three loci defined by single nucleotide polymorphisms (SNPs) rs11024102 in PLEKHA7, rs3753841 in COL... DisGeNET Detail
Recently, three genetic susceptibility loci for primary angle closure glaucoma (PACG) were identifie... DisGeNET Detail
Three susceptibility loci for primary angle-closure glaucoma (PACG) were recently identified: PLEKHA... DisGeNET Detail
Recently, three genetic susceptibility loci for primary angle closure glaucoma (PACG) were identifie... DisGeNET Detail
Three loci defined by single nucleotide polymorphisms (SNPs) rs11024102 in PLEKHA7, rs3753841 in COL... DisGeNET Detail
Recently, three genetic susceptibility loci for primary angle closure glaucoma (PACG) were identifie... DisGeNET Detail
Genome-wide association analyses identify three new susceptibility loci for primary angle closure gl... DisGeNET Detail
Our study suggests that rs1676486 and rs12138977 in COL11A1 as well as rs216489 and rs11024102 in PL... DisGeNET Detail
Our study suggests that rs1676486 and rs12138977 in COL11A1 as well as rs216489 and rs11024102 in PL... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs11024102 dbSNP
Genome
hg38
Position
chr11:16,987,058-16,987,058
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))
rs11024102
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4475
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7499
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
Genome browser