chr21:33036391:T>G Detail (hg19) (SOD1)

Information

Genome

Assembly Position
hg19 chr21:33,036,391-33,036,391
hg38 chr21:31,664,078-31,664,078 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000454.4:c.169+192T>G
Ensemble ENST00000270142.11:c.169+192T>G
ENST00000389995.4:c.112+192T>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.517
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 147450 OMIM
HGNC 11179 HGNC
Ensembl ENSG00000142168 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv64843815 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-07-03 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Stage IV Prostate Cancer AJCC v7 Seven interactions were statistically significant after adjusting for multiple t... BeFree 25315963 Detail
<0.001 Stage IV Prostate Cancer AJCC v7 Seven interactions were statistically significant after adjusting for multiple t... BeFree 25315963 Detail
<0.001 Stage IV Prostate Cancer AJCC v7 Seven interactions were statistically significant after adjusting for multiple t... BeFree 25315963 Detail
0.005 prostate carcinoma Two variants in SOD2 were significantly associated with the risk of aggressive p... BeFree 20477822 Detail
0.045 Malignant neoplasm of prostate Two variants in SOD2 were significantly associated with the risk of aggressive p... BeFree 20477822 Detail
<0.001 Stage IV Prostate Carcinoma Seven interactions were statistically significant after adjusting for multiple t... BeFree 25315963 Detail
<0.001 Stage IV Prostate Carcinoma Seven interactions were statistically significant after adjusting for multiple t... BeFree 25315963 Detail
0.011 Malignant neoplasm of prostate Two variants in SOD2 were significantly associated with the risk of aggressive p... BeFree 20477822 Detail
0.001 prostate carcinoma Two variants in SOD2 were significantly associated with the risk of aggressive p... BeFree 20477822 Detail
<0.001 Stage IV Prostate Carcinoma Seven interactions were statistically significant after adjusting for multiple t... BeFree 25315963 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000454.5(SOD1):c.169+192T>G AND not provided ClinVar Detail
Seven interactions were statistically significant after adjusting for multiple testing (FDR Q-value ... DisGeNET Detail
Seven interactions were statistically significant after adjusting for multiple testing (FDR Q-value ... DisGeNET Detail
Seven interactions were statistically significant after adjusting for multiple testing (FDR Q-value ... DisGeNET Detail
Two variants in SOD2 were significantly associated with the risk of aggressive prostate cancer (rs17... DisGeNET Detail
Two variants in SOD2 were significantly associated with the risk of aggressive prostate cancer (rs17... DisGeNET Detail
Seven interactions were statistically significant after adjusting for multiple testing (FDR Q-value ... DisGeNET Detail
Seven interactions were statistically significant after adjusting for multiple testing (FDR Q-value ... DisGeNET Detail
Two variants in SOD2 were significantly associated with the risk of aggressive prostate cancer (rs17... DisGeNET Detail
Two variants in SOD2 were significantly associated with the risk of aggressive prostate cancer (rs17... DisGeNET Detail
Seven interactions were statistically significant after adjusting for multiple testing (FDR Q-value ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs10432782 dbSNP
Genome
hg19
Position
chr21:33,036,391-33,036,391
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))
rs10432782
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5168
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8662
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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