chr11:118606652:A>G Detail (hg38) (PHLDB1)

Information

Genome

Assembly Position
hg19 chr11:118,477,367-118,477,367 View the variant detail on this assembly version.
hg38 chr11:118,606,652-118,606,652

HGVS

Type Transcript Protein
RefSeq NM_015157.3:c.-199A>G
Ensemble ENST00000361417.6:c.-199A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.790
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 612834 OMIM
HGNC 23697 HGNC
Ensembl ENSG00000019144 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv44214715 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
0.130 Glioma Seven independent chromosomal loci have robustly been associated with glioma ris... BeFree 21825990 Detail
0.257 Glioma Seven independent chromosomal loci have robustly been associated with glioma ris... BeFree 21825990 Detail
0.223 Glioma Seven independent chromosomal loci have robustly been associated with glioma ris... BeFree 21825990 Detail
0.173 Glioma Genome-wide association studies have identified single-nucleotide polymorphisms ... BeFree 23161787 Detail
0.252 Glioma Genome-wide association studies have identified single-nucleotide polymorphisms ... BeFree 23161787 Detail
0.257 Glioma Genome-wide association studies have identified single-nucleotide polymorphisms ... BeFree 23161787 Detail
0.269 Glioma Seven independent chromosomal loci have robustly been associated with glioma ris... BeFree 21825990 Detail
0.136 Glioma Seven independent chromosomal loci have robustly been associated with glioma ris... BeFree 21825990 Detail
0.136 Glioma Genome-wide association studies have identified single-nucleotide polymorphisms ... BeFree 23161787 Detail
0.252 Glioma Seven independent chromosomal loci have robustly been associated with glioma ris... BeFree 21825990 Detail
0.130 Glioma Genome-wide association studies have identified single-nucleotide polymorphisms ... BeFree 23161787 Detail
0.002 glioblastoma Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.3... BeFree 21350045 Detail
<0.001 glioblastoma Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.3... BeFree 21350045 Detail
0.257 Glioma Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.3... BeFree 21350045 Detail
0.018 glioblastoma Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.3... BeFree 21350045 Detail
0.252 Glioma Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.3... BeFree 21350045 Detail
0.269 Glioma Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.3... BeFree 21350045 Detail
0.136 Glioma We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x ... BeFree 19578367 Detail
0.136 Glioma Genome-wide association data have identified common genetic variants at 5p15.33 ... BeFree 20462933 Detail
0.257 Glioma We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x ... BeFree 19578367 Detail
<0.001 Chromosome 10, monosomy 10q rs2736100 (TERT) and rs6010620 (RTEL1) risk alleles were associated with high-gr... BeFree 23161787 Detail
0.130 Glioma Our group identified 5 risk loci for glioma susceptibility (TERT rs2736100, CCDC... BeFree 20212223 Detail
0.252 Glioma Genome-wide association studies have recently identified single-nucleotide polym... BeFree 20847058 Detail
0.269 Glioma Our group identified 5 risk loci for glioma susceptibility (TERT rs2736100, CCDC... BeFree 20212223 Detail
0.173 Glioma Genome-wide association data have identified common genetic variants at 5p15.33 ... BeFree 20462933 Detail
<0.001 Chromosome 10, monosomy 10q rs2736100 (TERT) and rs6010620 (RTEL1) risk alleles were associated with high-gr... BeFree 23161787 Detail
<0.001 Chromosome 10, monosomy 10q rs2736100 (TERT) and rs6010620 (RTEL1) risk alleles were associated with high-gr... BeFree 23161787 Detail
0.130 Glioma Genome-wide association studies have recently identified single-nucleotide polym... BeFree 20847058 Detail
0.173 Glioma Our group identified 5 risk loci for glioma susceptibility (TERT rs2736100, CCDC... BeFree 20212223 Detail
0.252 Glioma Genome-wide association data have identified common genetic variants at 5p15.33 ... BeFree 20462933 Detail
0.269 Glioma Genome-wide association data have identified common genetic variants at 5p15.33 ... BeFree 20462933 Detail
0.136 Glioma Our group identified 5 risk loci for glioma susceptibility (TERT rs2736100, CCDC... BeFree 20212223 Detail
0.136 Glioma Genome-wide association studies have recently identified single-nucleotide polym... BeFree 20847058 Detail
0.130 Glioma We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x ... BeFree 19578367 Detail
<0.001 Chromosome 10, monosomy 10q rs2736100 (TERT) and rs6010620 (RTEL1) risk alleles were associated with high-gr... BeFree 23161787 Detail
0.257 Glioma Genome-wide association studies have recently identified single-nucleotide polym... BeFree 20847058 Detail
0.130 Glioma Genome-wide association data have identified common genetic variants at 5p15.33 ... BeFree 20462933 Detail
0.173 Glioma We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x ... BeFree 19578367 Detail
0.257 Glioma Genome-wide association data have identified common genetic variants at 5p15.33 ... BeFree 20462933 Detail
0.269 Glioma Genome-wide association studies have recently identified single-nucleotide polym... BeFree 20847058 Detail
0.252 Glioma Our group identified 5 risk loci for glioma susceptibility (TERT rs2736100, CCDC... BeFree 20212223 Detail
0.052 Glioma Case-control analyses stratified into 4 molecular classes (defined by 1p-19q sta... BeFree 23161787 Detail
<0.001 Chromosome 10, monosomy 10q rs2736100 (TERT) and rs6010620 (RTEL1) risk alleles were associated with high-gr... BeFree 23161787 Detail
0.269 Glioma We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x ... BeFree 19578367 Detail
0.173 Glioma Genome-wide association studies have recently identified single-nucleotide polym... BeFree 20847058 Detail
0.252 Glioma We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x ... GWASCAT 19578367 Detail
0.252 Glioma [We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x... GAD 19578367 Detail
0.252 Glioma Chromosome 7p11.2 (EGFR) variation influences glioma risk. GWASCAT 21531791 Detail
0.252 Glioma [Chromosome 7p11.2 (EGFR) variation influences glioma risk.] GAD 21531791 Detail
Annotation

Annotations

DescrptionSourceLinks
Seven independent chromosomal loci have robustly been associated with glioma risk: 5p15.33 (rs273610... DisGeNET Detail
Seven independent chromosomal loci have robustly been associated with glioma risk: 5p15.33 (rs273610... DisGeNET Detail
Seven independent chromosomal loci have robustly been associated with glioma risk: 5p15.33 (rs273610... DisGeNET Detail
Genome-wide association studies have identified single-nucleotide polymorphisms (SNPs) at 7 loci inf... DisGeNET Detail
Genome-wide association studies have identified single-nucleotide polymorphisms (SNPs) at 7 loci inf... DisGeNET Detail
Genome-wide association studies have identified single-nucleotide polymorphisms (SNPs) at 7 loci inf... DisGeNET Detail
Seven independent chromosomal loci have robustly been associated with glioma risk: 5p15.33 (rs273610... DisGeNET Detail
Seven independent chromosomal loci have robustly been associated with glioma risk: 5p15.33 (rs273610... DisGeNET Detail
Genome-wide association studies have identified single-nucleotide polymorphisms (SNPs) at 7 loci inf... DisGeNET Detail
Seven independent chromosomal loci have robustly been associated with glioma risk: 5p15.33 (rs273610... DisGeNET Detail
Genome-wide association studies have identified single-nucleotide polymorphisms (SNPs) at 7 loci inf... DisGeNET Detail
Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.33 (RTEL1 rs6010620 (... DisGeNET Detail
Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.33 (RTEL1 rs6010620 (... DisGeNET Detail
Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.33 (RTEL1 rs6010620 (... DisGeNET Detail
Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.33 (RTEL1 rs6010620 (... DisGeNET Detail
Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.33 (RTEL1 rs6010620 (... DisGeNET Detail
Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.33 (RTEL1 rs6010620 (... DisGeNET Detail
We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x 10(-17)), 8q24.21 (r... DisGeNET Detail
Genome-wide association data have identified common genetic variants at 5p15.33 (rs2736100, TERT), 8... DisGeNET Detail
We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x 10(-17)), 8q24.21 (r... DisGeNET Detail
rs2736100 (TERT) and rs6010620 (RTEL1) risk alleles were associated with high-grade disease, EGFR am... DisGeNET Detail
Our group identified 5 risk loci for glioma susceptibility (TERT rs2736100, CCDC26 rs4295627, CDKN2A... DisGeNET Detail
Genome-wide association studies have recently identified single-nucleotide polymorphisms (SNP) in fi... DisGeNET Detail
Our group identified 5 risk loci for glioma susceptibility (TERT rs2736100, CCDC26 rs4295627, CDKN2A... DisGeNET Detail
Genome-wide association data have identified common genetic variants at 5p15.33 (rs2736100, TERT), 8... DisGeNET Detail
rs2736100 (TERT) and rs6010620 (RTEL1) risk alleles were associated with high-grade disease, EGFR am... DisGeNET Detail
rs2736100 (TERT) and rs6010620 (RTEL1) risk alleles were associated with high-grade disease, EGFR am... DisGeNET Detail
Genome-wide association studies have recently identified single-nucleotide polymorphisms (SNP) in fi... DisGeNET Detail
Our group identified 5 risk loci for glioma susceptibility (TERT rs2736100, CCDC26 rs4295627, CDKN2A... DisGeNET Detail
Genome-wide association data have identified common genetic variants at 5p15.33 (rs2736100, TERT), 8... DisGeNET Detail
Genome-wide association data have identified common genetic variants at 5p15.33 (rs2736100, TERT), 8... DisGeNET Detail
Our group identified 5 risk loci for glioma susceptibility (TERT rs2736100, CCDC26 rs4295627, CDKN2A... DisGeNET Detail
Genome-wide association studies have recently identified single-nucleotide polymorphisms (SNP) in fi... DisGeNET Detail
We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x 10(-17)), 8q24.21 (r... DisGeNET Detail
rs2736100 (TERT) and rs6010620 (RTEL1) risk alleles were associated with high-grade disease, EGFR am... DisGeNET Detail
Genome-wide association studies have recently identified single-nucleotide polymorphisms (SNP) in fi... DisGeNET Detail
Genome-wide association data have identified common genetic variants at 5p15.33 (rs2736100, TERT), 8... DisGeNET Detail
We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x 10(-17)), 8q24.21 (r... DisGeNET Detail
Genome-wide association data have identified common genetic variants at 5p15.33 (rs2736100, TERT), 8... DisGeNET Detail
Genome-wide association studies have recently identified single-nucleotide polymorphisms (SNP) in fi... DisGeNET Detail
Our group identified 5 risk loci for glioma susceptibility (TERT rs2736100, CCDC26 rs4295627, CDKN2A... DisGeNET Detail
Case-control analyses stratified into 4 molecular classes (defined by 1p-19q status, IDH mutation, a... DisGeNET Detail
rs2736100 (TERT) and rs6010620 (RTEL1) risk alleles were associated with high-grade disease, EGFR am... DisGeNET Detail
We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x 10(-17)), 8q24.21 (r... DisGeNET Detail
Genome-wide association studies have recently identified single-nucleotide polymorphisms (SNP) in fi... DisGeNET Detail
We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x 10(-17)), 8q24.21 (r... DisGeNET Detail
[We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x 10(-17)), 8q24.21 (... DisGeNET Detail
Chromosome 7p11.2 (EGFR) variation influences glioma risk. DisGeNET Detail
[Chromosome 7p11.2 (EGFR) variation influences glioma risk.] DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs498872 dbSNP
Genome
hg38
Position
chr11:118,606,652-118,606,652
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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))
rs498872
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.7897
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
13233
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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