chr8:51974981:C>T Detail (hg38)

Information

Genome

Assembly Position
hg19 chr8:52,887,541-52,887,541 View the variant detail on this assembly version.
hg38 chr8:51,974,981-51,974,981

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.010
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
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 This study suggests that primary angle closure glaucoma susceptibility at the PC... BeFree 23505305 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 This study suggests that primary angle closure glaucoma susceptibility at the PC... BeFree 23505305 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 Angle Closure Glaucoma In our study, rs1015213 (located in the intergenic region between PCMTD1 and ST1... BeFree 23847314 Detail
<0.001 Angle Closure Glaucoma In our study, rs1015213 (located in the intergenic region between PCMTD1 and ST1... BeFree 23847314 Detail
0.001 primary angle-closure glaucoma In our study, rs1015213 (located in the intergenic region between PCMTD1 and ST1... BeFree 23847314 Detail
0.001 primary angle-closure glaucoma In our study, rs1015213 (located in the intergenic region between PCMTD1 and ST1... 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 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
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
This study suggests that primary angle closure glaucoma susceptibility at the PCMTD1-ST18 locus may ... 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
This study suggests that primary angle closure glaucoma susceptibility at the PCMTD1-ST18 locus may ... 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
In our study, rs1015213 (located in the intergenic region between PCMTD1 and ST18) was associated si... DisGeNET Detail
In our study, rs1015213 (located in the intergenic region between PCMTD1 and ST18) was associated si... DisGeNET Detail
In our study, rs1015213 (located in the intergenic region between PCMTD1 and ST18) was associated si... DisGeNET Detail
In our study, rs1015213 (located in the intergenic region between PCMTD1 and ST18) was associated si... 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

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1015213 dbSNP
Genome
hg38
Position
chr8:51,974,981-51,974,981
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))
rs1015213
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0096
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
161
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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