chr22:32265903:T>G Detail (hg19) (DEPDC5)

Information

Genome

Assembly Position
hg19 chr22:32,265,903-32,265,903
hg38 chr22:31,869,917-31,869,917 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001136029.2:c.3331-673T>G
NM_014662.4:c.3238-673T>G
NM_001242897.1:c.3031-673T>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.125
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 614191 OMIM
HGNC 18423 HGNC
Ensembl ENSG00000100150 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv65744015 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
0.121 hepatitis B Rs423058 upstream of PAPL, rs2834167 in IL10RB and rs1012068 in DEPDC5 were asso... BeFree 25032264 Detail
<0.001 liver carcinoma Rs423058 upstream of PAPL, rs2834167 in IL10RB and rs1012068 in DEPDC5 were asso... BeFree 25032264 Detail
0.123 Hepatitis C, Chronic Variation in the DEPDC5 locus is associated with progression to hepatocellular c... GWASCAT 21725309 Detail
0.121 liver carcinoma Rs423058 upstream of PAPL, rs2834167 in IL10RB and rs1012068 in DEPDC5 were asso... BeFree 25032264 Detail
<0.001 hepatitis B Rs423058 upstream of PAPL, rs2834167 in IL10RB and rs1012068 in DEPDC5 were asso... BeFree 25032264 Detail
0.123 Hepatitis C, Chronic [Variation in the DEPDC5 locus is associated with progression to hepatocellular ... GAD 21725309 Detail
<0.001 liver carcinoma Rs423058 upstream of PAPL, rs2834167 in IL10RB and rs1012068 in DEPDC5 were asso... BeFree 25032264 Detail
Annotation

Annotations

DescrptionSourceLinks
Rs423058 upstream of PAPL, rs2834167 in IL10RB and rs1012068 in DEPDC5 were associated with chronic ... DisGeNET Detail
Rs423058 upstream of PAPL, rs2834167 in IL10RB and rs1012068 in DEPDC5 were associated with chronic ... DisGeNET Detail
Variation in the DEPDC5 locus is associated with progression to hepatocellular carcinoma in chronic ... DisGeNET Detail
Rs423058 upstream of PAPL, rs2834167 in IL10RB and rs1012068 in DEPDC5 were associated with chronic ... DisGeNET Detail
Rs423058 upstream of PAPL, rs2834167 in IL10RB and rs1012068 in DEPDC5 were associated with chronic ... DisGeNET Detail
[Variation in the DEPDC5 locus is associated with progression to hepatocellular carcinoma in chronic... DisGeNET Detail
Rs423058 upstream of PAPL, rs2834167 in IL10RB and rs1012068 in DEPDC5 were associated with chronic ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1012068 dbSNP
Genome
hg19
Position
chr22:32,265,903-32,265,903
Variant Type
snv
Reference Allele
T
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))
rs1012068
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1255
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2103
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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